Albinism
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Albinism is a genetic disorder characterized by little or no production of melanin pigment, resulting in pale skin, hair and eyes. It is caused by a recessive allele that prevents the production of tyrosinase, an enzyme needed to produce melanin from the amino acid tyrosine. There are two main types: oculocutaneous albinism affecting the eyes, skin and hair, and ocular albinism only affecting the eyes. Treatments include protective clothing, sunglasses and sunscreen to prevent sun damage.
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Albinism
This document discusses albinism, a congenital disorder characterized by little or no pigmentation in the skin, hair and eyes. It is caused by a recessive gene that results in a lack of the enzyme tyrosinase needed to produce melanin. There are different types of albinism that can affect the eyes only or eyes, skin and hair. Albinism is associated with vision defects like photophobia, nystagmus and astigmatism as well as sun sensitivity. Diagnosis involves genetic testing or eye exams. Treatment focuses on protecting the skin from sun exposure and addressing vision problems. The condition does not affect lifespan except in rare cases of associated disorders.
Albinism
Albinism Presentation contents:
1- Introduction
2- Epidemiology
3- Biochemical bases
4- Management and Treatment
Albinism
Albinism is a genetic condition characterized by little or no melanin pigment production in the body. This results in pale skin, hair and eyes that lack pigmentation. There are two main types - ocular albinism which only affects the eyes, and oculocutaneous albinism which affects the eyes, hair and skin. Problems associated with albinism include increased risk of sun damage and skin cancers due to lack of sun protection, as well as vision impairments. While there is no cure, symptoms can be managed through sun protection, eyewear and sometimes surgery. Albinism occurs in both humans and animals.
Albinism powerpoint[1]
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
Albinism presantation
Albinism is a congenital disorder characterized by partial or complete lack of melanin pigment in the skin, hair, and eyes. It results from inherited recessive gene alleles and affects the production of melanin through defects in enzymes involved in melanin synthesis. There are two main types of albinism in humans - oculocutaneous albinism (OCA), which affects pigment in the eyes, skin, and hair; and ocular albinism (OA), which only affects pigment in the eyes. OCA can be further classified into 4 types based on the genetic defects involved. Vision problems commonly associated with albinism include nystagmus, strabismus, photophobia, refractive errors, and
Albinism
Albinism is a congenital disorder characterized by little to no production of melanin pigment in the skin, hair and eyes. This results in vision problems, sensitivity to bright light, and an increased risk of sunburn and skin cancer. The condition is inherited through recessive genes from both parents and affects all races. Treatment focuses on managing vision problems through glasses, low vision aids, and protecting the skin from sun exposure.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Albinism
Albinism is a genetic condition characterized by little to no melanin production, resulting in pale skin, hair and eyes that are often light-colored. It is inherited through an autosomal recessive gene, meaning both parents must be carriers for a child to be born with albinism. There is no cure, but treatments can help ease vision problems and sensitivity to light through the use of sunglasses, sunscreen and protective clothing. Support organizations provide information and aid to those living with albinism.
Recommended
Albinism
This document discusses albinism, a congenital disorder characterized by little or no pigmentation in the skin, hair and eyes. It is caused by a recessive gene that results in a lack of the enzyme tyrosinase needed to produce melanin. There are different types of albinism that can affect the eyes only or eyes, skin and hair. Albinism is associated with vision defects like photophobia, nystagmus and astigmatism as well as sun sensitivity. Diagnosis involves genetic testing or eye exams. Treatment focuses on protecting the skin from sun exposure and addressing vision problems. The condition does not affect lifespan except in rare cases of associated disorders.
Albinism
Albinism Presentation contents:
1- Introduction
2- Epidemiology
3- Biochemical bases
4- Management and Treatment
Albinism
Albinism is a genetic condition characterized by little or no melanin pigment production in the body. This results in pale skin, hair and eyes that lack pigmentation. There are two main types - ocular albinism which only affects the eyes, and oculocutaneous albinism which affects the eyes, hair and skin. Problems associated with albinism include increased risk of sun damage and skin cancers due to lack of sun protection, as well as vision impairments. While there is no cure, symptoms can be managed through sun protection, eyewear and sometimes surgery. Albinism occurs in both humans and animals.
Albinism powerpoint[1]
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
Albinism presantation
Albinism is a congenital disorder characterized by partial or complete lack of melanin pigment in the skin, hair, and eyes. It results from inherited recessive gene alleles and affects the production of melanin through defects in enzymes involved in melanin synthesis. There are two main types of albinism in humans - oculocutaneous albinism (OCA), which affects pigment in the eyes, skin, and hair; and ocular albinism (OA), which only affects pigment in the eyes. OCA can be further classified into 4 types based on the genetic defects involved. Vision problems commonly associated with albinism include nystagmus, strabismus, photophobia, refractive errors, and
Albinism
Albinism is a congenital disorder characterized by little to no production of melanin pigment in the skin, hair and eyes. This results in vision problems, sensitivity to bright light, and an increased risk of sunburn and skin cancer. The condition is inherited through recessive genes from both parents and affects all races. Treatment focuses on managing vision problems through glasses, low vision aids, and protecting the skin from sun exposure.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Albinism
Albinism is a genetic condition characterized by little to no melanin production, resulting in pale skin, hair and eyes that are often light-colored. It is inherited through an autosomal recessive gene, meaning both parents must be carriers for a child to be born with albinism. There is no cure, but treatments can help ease vision problems and sensitivity to light through the use of sunglasses, sunscreen and protective clothing. Support organizations provide information and aid to those living with albinism.
Albinism
Albinism is a hereditary condition caused by a lack of melanin pigment in the skin, hair, and eyes. It results from a recessive gene and causes little to no pigmentation, making skin and hair very light in color and eyes often red or blue. Symptoms include light sensitivity, vision problems, and nystagmus. There are different types of albinism that vary in severity based on the amount of residual melanin present. Proper sun protection and sunglasses are important to manage health issues associated with albinism.
Albinism
Albinism is a genetic disorder that causes partial or complete lack of melanin pigment in the skin, hair and eyes. Melanin is responsible for skin, hair and eye color and protects against UV radiation. There are different types of albinism depending on whether the lack of melanin affects just the eyes or both eyes and skin. The most common types are oculocutaneous albinism, which affects eyes and skin, and ocular albinism, which only affects the eyes. Albinism is usually inherited in an autosomal recessive pattern and can cause vision problems, light sensitivity, and higher skin cancer risk. While there is no cure, treatments focus on vision rehabilitation and protection from UV exposure.
Albinism
Albinism is a genetic disorder characterized by little or no production of melanin pigment. This results in white hair, pale skin, and vision problems. There are two main types - oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The types are distinguished by their genetic cause and symptoms. Albinism is inherited through autosomal recessive or X-linked inheritance patterns. Diagnosis involves examining family history, vision, skin pigmentation, and sometimes genetic testing. There is no cure, but treatments focus on managing vision problems and protecting the skin from sun exposure.
Color Blindness
Color blindness, or color vision deficiency, is caused by a problem with the development of retinal cones resulting in an inability to distinguish some or all colors. It is usually inherited and affects around 8% of men and 0.5% of women of Northern European descent. There are different types of color blindness including total color blindness (monochromacy), partial color blindness (dichromacy affecting red/green or blue/yellow vision), and anomalous trichromacy where one cone is altered. It is diagnosed using color vision tests like the Ishihara test and managed using colored lenses but cannot be cured.
Color Blindness
Color blindness is inherited and passed down through the X chromosome from mothers to their children. It can remain stable over a person's lifetime or potentially worsen. There are three main types of inherited color blindness - monochromacy, dichromacy, and trichromacy. Monochromacy is the most severe form and results in a total inability to distinguish colors. Dichromacy occurs when one cone pigment is missing, reducing color vision to two dimensions. Anomalous trichromacy is the most common type, where one cone pigment is slightly altered, impairing but not eliminating three-dimensional color vision. There is no cure for color blindness, but sunglasses, tinted contacts, and color blindness tests
Retinoblastoma
Retinoblastoma is a cancer of the retina that develops from mutations in the RB1 gene. It is the most common eye cancer in children. Treatment involves various modalities like chemotherapy, thermotherapy, cryotherapy, brachytherapy, or external beam radiotherapy to preserve vision and the eye if possible. Enucleation is recommended if over 50% of the eye is involved or there is suspicion of extraocular extension. Retinoblastoma management aims to preserve life first, then the eye, and vision.
Color blindness powerpoint
Colour blindness is a genetic condition that makes it difficult or impossible to distinguish between certain colours. It is caused by mutations in genes related to colour perception and is more common in males. The symptoms of colour blindness vary between individuals and can range from trouble distinguishing between red and green to seeing only shades of black, white and grey. While there is no cure, colour blindness can be tested for using pseudoisochromatic plates or Ishihara tests, and filters may help some people better distinguish colours. Recent research has shown that gene therapy may one day provide an option to treat colour blindness.
Albinism
Albinism is a genetic disorder where melanocytes cannot produce enough melanin, resulting in a lack of color in hair, skin, and eyes. It is caused by a recessive gene, requiring both parents to carry the gene for a child to be affected. Albinism affects people of all races and can cause vision problems, skin problems, light sensitivity, and increased risk of skin cancer. Treatment focuses on protecting the skin from sun exposure and managing vision issues. Most people with albinism can expect a normal lifespan, though some related conditions may reduce life expectancy.
Colour blindness
The document discusses color vision and color vision deficiencies. It notes that normal color vision is mediated by red, green, and blue cones in the retina. The most common types of color vision deficiencies are anomalous trichromacy, where one color is seen weakly, and dichromacy, where one cone type is absent. Common forms of deficiencies are protanomaly, deuteranomaly, and tritanomaly. Several tests are described to diagnose color vision deficiencies, including pseudoisochromatic plates, the Farnsworth-Munsell 100 hue test, and the Nagel anomaloscope. The document provides details on administration and analysis of the Ishihara and other color vision tests.
Color blindness
Color blindness, also known as color deficiency, occurs when someone has trouble distinguishing between certain colors, most commonly reds and greens. It is caused by mutations in genes responsible for the three types of cone cells in the retina that detect color. The most common types are red-green color blindness, which affects males more than females, and blue-yellow color blindness, which affects males and females equally. Color blindness can be inherited through X-linked recessive or autosomal dominant patterns or developed due to age, illness, chemicals, or eye trauma. It is detected using Ishihara color plate tests and in some cases treated with color filters.
Color Blindness
Color blindness is usually a genetic disorder that causes the inability to see certain colors in the usual way. The most common type is trouble telling the difference between reds and greens. The most severe form is achromatopsia, where a person cannot see any color at all. While there are no cures, specially tinted contacts can help some people distinguish shades. Color blindness can make some jobs, driving, and cooking more difficult.
Color Vision Deficiency and Ishihara's Test
1) Color vision deficiency is the reduced ability to see color differences due to an absence of color-sensitive pigments in the eye. It is usually genetic and most common in men.
2) There are two main types - red-green deficiency which makes distinguishing red and green difficult, and blue-yellow deficiency which affects blue and green/yellow.
3) The Ishihara test is commonly used to test for red-green deficiency using plates with colored dots that form numbers visible to those with normal color vision but not for those with deficiencies.
Chloroquine retinopathy
This presentation emphasizes the importance of screening for chloroquine retinopathy according to new AAO guidelines. While bull's eye maculopathy is a classic late-stage sign, initial photoreceptor damage typically occurs parafoveally in Europeans and peripherally near the arcades in Asians. Screening tests like automated visual fields and SD-OCT can detect toxicity before visible RPE damage, as irreversible progression often occurs by the time bull's eye maculopathy appears. Risk of toxicity depends on daily dose, with very thin patients at increased risk when dose is based on ideal rather than actual weight.
Color blindness
The document summarizes color blindness and how it is caused by deficiencies in the cone cells of the retina that are responsible for color perception. There are three main types of cone cells (red, green, blue) and color blindness results from the partial or complete loss of function of one or more of these cone systems. Color blindness is usually tested using Ishihara color plates and additional tests that use patterns defined by red-green or yellow-blue variations to diagnose the specific type of color blindness. Unfortunately, there is no cure for color blindness once diagnosed.
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(2) The patient was diagnosed with HIV 9 years prior but had discontinued antiretroviral medications for 3 years. After being treated for central nervous system tuberculosis, HAART was restarted without prior treatment for CMV retinitis.
(3) Examination showed signs of active CMV retinitis and IRU in the left eye. The patient was treated with oral and topical medications,
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This document provides information on retinoblastoma, a rare eye cancer that affects children. It is the most common primary intraocular tumor in childhood. Key points include that it can be hereditary or sporadic, presents most often as leukocoria, and if left untreated can be fatal. Treatment options described are various localized therapies as well as enucleation if needed. Differential diagnoses discussed include persistent hyperplastic primary vitreous, retinopathy of prematurity, ocular toxocariasis, and Coats' disease.
Pathology of uvea
This document provides an overview of pathology of the uvea. It begins by describing the layers of the iris and ciliary body. It then discusses common pathological disorders including congenital anomalies, inflammation, neoplasms, degenerative diseases, vascular diseases, and trauma. Specific conditions affecting the iris, ciliary body, and choroid are described such as iris cysts, nodules, melanoma, ciliary body tumors, and choroidal dystrophies. Inflammatory diseases including uveitis and granulomatous inflammation are also summarized.
Choroidal melanoma
Choroidal melanomas are the most common primary intraocular malignancies in adults. They arise from melanocytes within the choroid and can be pigmented or amelanotic. Risk factors include light iris color and increased sun exposure. Diagnosis is based on clinical appearance, ultrasound, and fluorescein angiography. Prognosis depends on tumor size, cell type, genetic factors, and presence of extrascleral extension. The liver is the most common site of metastasis.
Achromatopsia
This document provides information about achromatopsia, a rare genetic disorder characterized by the inability to perceive color. It discusses the signs and symptoms, which include seeing only in shades of gray. The causes are described as either acquired damage to the thalamus or retina or congenital mutations impacting color vision genes like CNGA3, CNGB3, GNAT2, PDE6C and PDE6H. Diagnosis involves color vision testing, electroretinography and genetic testing. Treatments aim to help patients cope rather than cure the condition. The document also summarizes studies on Pakistani families that identified genetic mutations responsible for their achromatopsia.
Albinism
The document discusses a study on albinism in Puerto Rico. The study aims to determine the predominant type of albinism on the island and estimate the number of people affected. It will involve obtaining permissions, distributing surveys, and analyzing results to discover if the most common type with no pigment in skin, hair, and eyes predominates or if another type is more prevalent. The research also seeks to identify what areas of Puerto Rico have higher concentrations of people with albinism.
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Phenylketonuria is a genetic disorder caused by a mutation in the PAH gene, which results in excessive levels of the amino acid phenylalanine. If left untreated, it can cause intellectual disabilities, stunted growth, eczema, small head size, and seizures. Treatment involves maintaining appropriate phenylalanine levels through diet control. It occurs in about 1 in 10,000 to 15,000 births and can be diagnosed via a blood test.
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Albinism
Albinism is a hereditary condition caused by a lack of melanin pigment in the skin, hair, and eyes. It results from a recessive gene and causes little to no pigmentation, making skin and hair very light in color and eyes often red or blue. Symptoms include light sensitivity, vision problems, and nystagmus. There are different types of albinism that vary in severity based on the amount of residual melanin present. Proper sun protection and sunglasses are important to manage health issues associated with albinism.
Albinism
Albinism is a genetic disorder that causes partial or complete lack of melanin pigment in the skin, hair and eyes. Melanin is responsible for skin, hair and eye color and protects against UV radiation. There are different types of albinism depending on whether the lack of melanin affects just the eyes or both eyes and skin. The most common types are oculocutaneous albinism, which affects eyes and skin, and ocular albinism, which only affects the eyes. Albinism is usually inherited in an autosomal recessive pattern and can cause vision problems, light sensitivity, and higher skin cancer risk. While there is no cure, treatments focus on vision rehabilitation and protection from UV exposure.
Albinism
Albinism is a genetic disorder characterized by little or no production of melanin pigment. This results in white hair, pale skin, and vision problems. There are two main types - oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The types are distinguished by their genetic cause and symptoms. Albinism is inherited through autosomal recessive or X-linked inheritance patterns. Diagnosis involves examining family history, vision, skin pigmentation, and sometimes genetic testing. There is no cure, but treatments focus on managing vision problems and protecting the skin from sun exposure.
Color Blindness
Color blindness, or color vision deficiency, is caused by a problem with the development of retinal cones resulting in an inability to distinguish some or all colors. It is usually inherited and affects around 8% of men and 0.5% of women of Northern European descent. There are different types of color blindness including total color blindness (monochromacy), partial color blindness (dichromacy affecting red/green or blue/yellow vision), and anomalous trichromacy where one cone is altered. It is diagnosed using color vision tests like the Ishihara test and managed using colored lenses but cannot be cured.
Color Blindness
Color blindness is inherited and passed down through the X chromosome from mothers to their children. It can remain stable over a person's lifetime or potentially worsen. There are three main types of inherited color blindness - monochromacy, dichromacy, and trichromacy. Monochromacy is the most severe form and results in a total inability to distinguish colors. Dichromacy occurs when one cone pigment is missing, reducing color vision to two dimensions. Anomalous trichromacy is the most common type, where one cone pigment is slightly altered, impairing but not eliminating three-dimensional color vision. There is no cure for color blindness, but sunglasses, tinted contacts, and color blindness tests
Retinoblastoma
Retinoblastoma is a cancer of the retina that develops from mutations in the RB1 gene. It is the most common eye cancer in children. Treatment involves various modalities like chemotherapy, thermotherapy, cryotherapy, brachytherapy, or external beam radiotherapy to preserve vision and the eye if possible. Enucleation is recommended if over 50% of the eye is involved or there is suspicion of extraocular extension. Retinoblastoma management aims to preserve life first, then the eye, and vision.
Color blindness powerpoint
Colour blindness is a genetic condition that makes it difficult or impossible to distinguish between certain colours. It is caused by mutations in genes related to colour perception and is more common in males. The symptoms of colour blindness vary between individuals and can range from trouble distinguishing between red and green to seeing only shades of black, white and grey. While there is no cure, colour blindness can be tested for using pseudoisochromatic plates or Ishihara tests, and filters may help some people better distinguish colours. Recent research has shown that gene therapy may one day provide an option to treat colour blindness.
Albinism
Albinism is a genetic disorder where melanocytes cannot produce enough melanin, resulting in a lack of color in hair, skin, and eyes. It is caused by a recessive gene, requiring both parents to carry the gene for a child to be affected. Albinism affects people of all races and can cause vision problems, skin problems, light sensitivity, and increased risk of skin cancer. Treatment focuses on protecting the skin from sun exposure and managing vision issues. Most people with albinism can expect a normal lifespan, though some related conditions may reduce life expectancy.
Colour blindness
The document discusses color vision and color vision deficiencies. It notes that normal color vision is mediated by red, green, and blue cones in the retina. The most common types of color vision deficiencies are anomalous trichromacy, where one color is seen weakly, and dichromacy, where one cone type is absent. Common forms of deficiencies are protanomaly, deuteranomaly, and tritanomaly. Several tests are described to diagnose color vision deficiencies, including pseudoisochromatic plates, the Farnsworth-Munsell 100 hue test, and the Nagel anomaloscope. The document provides details on administration and analysis of the Ishihara and other color vision tests.
Color blindness
Color blindness, also known as color deficiency, occurs when someone has trouble distinguishing between certain colors, most commonly reds and greens. It is caused by mutations in genes responsible for the three types of cone cells in the retina that detect color. The most common types are red-green color blindness, which affects males more than females, and blue-yellow color blindness, which affects males and females equally. Color blindness can be inherited through X-linked recessive or autosomal dominant patterns or developed due to age, illness, chemicals, or eye trauma. It is detected using Ishihara color plate tests and in some cases treated with color filters.
Color Blindness
Color blindness is usually a genetic disorder that causes the inability to see certain colors in the usual way. The most common type is trouble telling the difference between reds and greens. The most severe form is achromatopsia, where a person cannot see any color at all. While there are no cures, specially tinted contacts can help some people distinguish shades. Color blindness can make some jobs, driving, and cooking more difficult.
Color Vision Deficiency and Ishihara's Test
1) Color vision deficiency is the reduced ability to see color differences due to an absence of color-sensitive pigments in the eye. It is usually genetic and most common in men.
2) There are two main types - red-green deficiency which makes distinguishing red and green difficult, and blue-yellow deficiency which affects blue and green/yellow.
3) The Ishihara test is commonly used to test for red-green deficiency using plates with colored dots that form numbers visible to those with normal color vision but not for those with deficiencies.
Chloroquine retinopathy
This presentation emphasizes the importance of screening for chloroquine retinopathy according to new AAO guidelines. While bull's eye maculopathy is a classic late-stage sign, initial photoreceptor damage typically occurs parafoveally in Europeans and peripherally near the arcades in Asians. Screening tests like automated visual fields and SD-OCT can detect toxicity before visible RPE damage, as irreversible progression often occurs by the time bull's eye maculopathy appears. Risk of toxicity depends on daily dose, with very thin patients at increased risk when dose is based on ideal rather than actual weight.
Color blindness
The document summarizes color blindness and how it is caused by deficiencies in the cone cells of the retina that are responsible for color perception. There are three main types of cone cells (red, green, blue) and color blindness results from the partial or complete loss of function of one or more of these cone systems. Color blindness is usually tested using Ishihara color plates and additional tests that use patterns defined by red-green or yellow-blue variations to diagnose the specific type of color blindness. Unfortunately, there is no cure for color blindness once diagnosed.
Eye in leprosy
This document discusses ocular involvement in leprosy. It notes that 70-75% of leprosy patients experience ocular involvement, with 10-50% experiencing severe symptoms and 5% becoming blind. The major parts of the eye affected include the eyelids, cornea, iris, ciliary body, conjunctiva, and nerves. Common complications include blepharochalasis, madarosis, trichiasis, lagophthalmos, dacryocystitis, punctate keratitis, pannus, iridocyclitis, glaucoma, and cataract. Modes of infection include direct invasion via blood or nerves. Management involves antibiotics, steroids, surgery, and
CMV RETINITS.pptx
(1) This case report describes a rare presentation of a 48-year-old male with HIV who developed immune recovery uveitis (IRU) associated with active cytomegalovirus (CMV) retinitis after starting highly active antiretroviral therapy (HAART).
(2) The patient was diagnosed with HIV 9 years prior but had discontinued antiretroviral medications for 3 years. After being treated for central nervous system tuberculosis, HAART was restarted without prior treatment for CMV retinitis.
(3) Examination showed signs of active CMV retinitis and IRU in the left eye. The patient was treated with oral and topical medications,
0001 leukocoria.ppt
This document provides information on retinoblastoma, a rare eye cancer that affects children. It is the most common primary intraocular tumor in childhood. Key points include that it can be hereditary or sporadic, presents most often as leukocoria, and if left untreated can be fatal. Treatment options described are various localized therapies as well as enucleation if needed. Differential diagnoses discussed include persistent hyperplastic primary vitreous, retinopathy of prematurity, ocular toxocariasis, and Coats' disease.
Pathology of uvea
This document provides an overview of pathology of the uvea. It begins by describing the layers of the iris and ciliary body. It then discusses common pathological disorders including congenital anomalies, inflammation, neoplasms, degenerative diseases, vascular diseases, and trauma. Specific conditions affecting the iris, ciliary body, and choroid are described such as iris cysts, nodules, melanoma, ciliary body tumors, and choroidal dystrophies. Inflammatory diseases including uveitis and granulomatous inflammation are also summarized.
Choroidal melanoma
Choroidal melanomas are the most common primary intraocular malignancies in adults. They arise from melanocytes within the choroid and can be pigmented or amelanotic. Risk factors include light iris color and increased sun exposure. Diagnosis is based on clinical appearance, ultrasound, and fluorescein angiography. Prognosis depends on tumor size, cell type, genetic factors, and presence of extrascleral extension. The liver is the most common site of metastasis.
Achromatopsia
This document provides information about achromatopsia, a rare genetic disorder characterized by the inability to perceive color. It discusses the signs and symptoms, which include seeing only in shades of gray. The causes are described as either acquired damage to the thalamus or retina or congenital mutations impacting color vision genes like CNGA3, CNGB3, GNAT2, PDE6C and PDE6H. Diagnosis involves color vision testing, electroretinography and genetic testing. Treatments aim to help patients cope rather than cure the condition. The document also summarizes studies on Pakistani families that identified genetic mutations responsible for their achromatopsia.
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Albinism
The document discusses a study on albinism in Puerto Rico. The study aims to determine the predominant type of albinism on the island and estimate the number of people affected. It will involve obtaining permissions, distributing surveys, and analyzing results to discover if the most common type with no pigment in skin, hair, and eyes predominates or if another type is more prevalent. The research also seeks to identify what areas of Puerto Rico have higher concentrations of people with albinism.
Phenylketonuria alex gandhi and athavan balendran
Phenylketonuria is a genetic disorder caused by a mutation in the PAH gene, which results in excessive levels of the amino acid phenylalanine. If left untreated, it can cause intellectual disabilities, stunted growth, eczema, small head size, and seizures. Treatment involves maintaining appropriate phenylalanine levels through diet control. It occurs in about 1 in 10,000 to 15,000 births and can be diagnosed via a blood test.
Phenylketonuria Alkaptonuria Albinism
This document discusses the molecular basis of three genetic diseases: phenylketonuria (PKU), alkaptonuria, and albinism. PKU is caused by a defect in the enzyme phenylalanine hydroxylase, leading to increased phenylalanine levels and potential mental retardation if left untreated. Alkaptonuria is caused by a defect in homogentisate 1,2-dioxygenase, causing a buildup of homogentisic acid and darkening of connective tissues over time. Albinism is caused by defects in enzymes involved in melanin production, resulting in little to no pigmentation in hair, skin, and eyes.
phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that causes the buildup of phenylalanine in the body due to the lack of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine from the diet. The buildup of phenylalanine can lead to intellectual disability if not treated through a low-protein diet. PKU results from mutations in the PAH gene which provides instructions for making the phenylalanine hydroxylase enzyme. The disorder was first discovered in 1934 and can now be diagnosed through newborn screening to help prevent complications through early treatment.
Alkaptonuria
Mutations in the HGD gene cause alkaptonuria, a rare genetic disorder where the body cannot break down the amino acids phenylalanine and tyrosine. This causes the intermediate substance homogentisic acid to accumulate in the blood and tissues. Homogentisic acid is excreted in urine, giving it a dark color, and deposits in cartilage and connective tissues over time, leading to osteoarthritis and damage to heart valves and kidneys. Symptoms include darkening of urine, eyes, and ears as well as arthritis.
Alkaptonuria
Alkaptonuria is a rare genetic disorder that causes the buildup of homogentisic acid in the body's tissues due to a defect in the HGD gene. This buildup leads to dark pigmentation of cartilage and other connective tissues, as well as arthritis later in life. Affected individuals' urine turns black upon exposure to air, and testing for alkaptonuria involves adding ferric chloride to urine samples. While there is no cure, high doses of vitamin C may help slow the progression of symptoms.
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
This document discusses genetics and genetic disorders. It provides information on three main categories of genetic disorders: single gene disorders caused by defects in one gene (like sickle cell anemia), chromosome disorders where entire chromosomes are missing or altered (like Down syndrome), and multifactorial disorders caused by multiple genes and environment (like cancer).
It then focuses on two specific genetic disorders - Phenylketonuria (PKU) and Congenital Hypothyroidism. PKU is caused by a defect in the PAH gene and results in high phenylalanine levels if not treated through diet. Congenital Hypothyroidism is a loss of thyroid function present at birth, and can impact growth, metabolism and
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Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
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Similar to Albinism
Albinism Pp 1212440758762697 9
Albinism is a genetic condition characterized by little to no melanin production, resulting in pale skin, hair and eyes that are often light-colored. It is inherited through an autosomal recessive gene, meaning both parents must be carriers for a child to be born with albinism. There is no cure, but treatments can help ease vision problems and sensitivity to light through the use of sunglasses, sunscreen and protective clothing. Support organizations provide information and aid to those living with albinism.
Albanism
Albinism is caused by a point mutation that depends on the specific case. The most common form is oculocutaneous albinism, which has four types: OCA1, OCA2, OCA3, and OCA4. Symptoms include little to no pigment in hair, eyes, and skin, eye problems like poor vision, and sun sensitivity. Albinism does not improve or worsen over time, but increases risk of sun damage and skin cancer. Incidence is about 1 in 17,000 in the US but higher in some other areas, and about 1 in 70 Americans carries the gene. Albinism is inherited through recessive alleles, so a carrier can pass on the gene without having albinism
Albinism
Albinism is a genetic condition that causes little or no pigmentation in the skin, hair, and eyes. It results from a faulty gene that prevents the body from producing typical amounts of melanin. People with albinism often experience vision problems, sensitivity to light, and lack of color in their features. While albinism has been observed throughout history, it was not formally recognized as a genetic condition until 1908. Today, genetic testing can help diagnose different types of albinism, while treatments focus on protecting the skin and eyes from sunlight and correcting vision issues.
Conduct some basic research on the recessive disorder Albinism.Des.pdf
Conduct some basic research on the recessive disorder Albinism.
Describe the disease and its genetic basis.
Explain how this disease is inherited and why it is not always inherited.
Why is genetic testing controversial?
Provide references for your research
Solution
The term recessive disorder Albinism isdefined a is a congenital disorder which usually happens
due to complete or partial absence of the pigment which is present in the skin, hair and eyes.
Moreover it isr elated to a number of vision defects.These include: photophobia, nystagmus, and
amblyopia. Another important aspect is the Lack of skin pigmentation can usually lead to
sunburn .
This disorder is usually passes from parents to their children through the concept of genes. The
most importaant aspect for inhertiance is that both the parents should carry an albinism gene in
order to have a child who suffers from albinism disorder.Moreover, the parents can also have
normal pigmentation but they still are able to carry the gene. Finally as both parents are able to
carry the gene, and none of the parent has albinism.This means that there is a one-in-four chance
which can happen at pregnancy that the baby will be born with albinism disorder.
Genetic testing is controversial because after determining the sex of the child ,some parents
decide to abort it.So,in order to prevent this it has become controversial in some countries like
india where it is illegal.
References:
1.https://www.aapos.org/terms/conditions/12
2..
describe a real-life example of selection against a homozygous reces.pdf
describe a real-life example of selection against a homozygous recessive genotype
Solution
When both the alleles of a particular chromosome are recessive, it’s called homozygous
recessive for that chromosome pair. There are few real life examples of homozygous recessive
such as albinism, cystic fibrosis etc.
Albinism is congenital disorder in humans that is a characterized by absence of pigment in skin,
eyes, and hairs. Absence of pigment may be partial or complete. Lack of skin pigmentation in
albinism makes individual more sensitive to sunlight and susceptible skin sunburn and skin
cancers. Albinism is also associated with visions defects such as amblyopia, photophobia and
nystagmus. This disorder is due to inheritance of recessive alleles which has defect/ absence of
tyrosinase involved in the production of melanin..
International Albinism Awareness Day IAAD, 13 June
Albinism is a congenital disorder characterized by the partial or complete absence of pigment in the skin, hair, and eyes. It results from inherited recessive genes and affects the production of melanin. There are two main types: oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The United Nations adopted a resolution in 2013 to prevent attacks and discrimination against persons with albinism.
Skin Diversity Reflection
This document discusses skin diversity and phenotypic variation between and within human races. It notes that people of the same race can look completely different from one another due to variations in skin color, eye color, and other physical traits. These differences are caused by differing amounts of melanin pigment in skin and eyes. The document explores how the author's understanding of skin tones and their associations with different parts of the world has evolved over time and with exposure to more diverse populations.
Laura kelly
Albinism is a genetic mutation caused by a recessive gene that results in little to no melanin pigment in the skin, hair, and eyes. It causes pale skin, white hair, eye problems like sensitivity to light and poor vision. Albinism is present at birth and lifelong, with no cure or prevention other than protecting the skin from sun exposure and treating eye issues. It can affect any race or gender.
Laura kelly
Albinism is a genetic mutation caused by a recessive gene that results in little to no melanin pigment in the skin, hair, and eyes. It causes pale skin, white hair, eye problems like sensitivity to light and poor vision from a lack of melanin in the iris and retina. Albinism is present at birth and lifelong, with treatments focusing on protecting the skin from sun damage and correcting vision problems.
The danger of being albino in africa
Albinism is a genetic condition characterized by little or no pigmentation in the skin, hair, and eyes. It is caused by an inability to produce the pigment melanin and affects people of all races. In Africa, people with albinism face additional dangers as there is a belief that their body parts can be used for witchcraft rituals, leading to increased risks of attack. They also have health problems like lung illness and bleeding from an inability to protect against the sun's UV rays.
Albinism.pptx
Albinism is an inborn disorder characterized by a partial or complete lack of pigmentation in the skin, hair, and eyes. It is caused by an absence of the tyrosinase enzyme in melanocytes, which is required for synthesizing melanin pigment. Without this enzyme, people with albinism cannot produce melanin, resulting in white skin, hair, and irises. They are also more susceptible to sunburns, skin cancer, and photophobia due to the lack of protective melanin pigment. Albinism is an autosomal recessive genetic disorder.
Albinism.pptx
Albinism is characterized by absent or decreased skin pigment and can affect the eyes, hair, and skin. It is caused by mutations that impact melanin production and can be divided into two main types: oculocutaneous albinism, which affects multiple areas, and ocular albinism, which is limited to the eyes. Clinical features include iris transillumination, foveal hypoplasia, abnormal crossing of the visual pathways, photophobia, and refractive errors. Management focuses on sun protection and early vision screening.
Empowering Voices: The Role of Advocacy in Promoting Albinism Health and Well...
Ikponwosa Ero's expertise in human rights and diversity and inclusion has enabled her to make significant contributions to the field of albinism health and wellbeing, earning her a reputation as a respected authority in her field.
Disorders of hypoigmentation cont.
Albinism
Chédiak–Higashi syndrome
Piebaldism
Waardenburg syndrome
Nevus depigmentosus
Idiopathic Guttate Hypomelanosis
Vogt–Koyanagi–Harada syndrome
Phenylketonuria (PKU)
Melanin--Synthesis-Rajendra
1) Melanin is the pigment that determines skin and hair color and is produced in melanocytes.
2) Types of melanin include eumelanin, pheomelanin, and neuromelanin, which impart different colors.
3) Albinism is a genetic condition that results in little to no production of melanin, causing lack of pigmentation in hair, skin, and eyes along with vision problems.
Similar to Albinism (15)
Conduct some basic research on the recessive disorder Albinism.Des.pdf
Conduct some basic research on the recessive disorder Albinism.Des.pdf
describe a real-life example of selection against a homozygous reces.pdf
describe a real-life example of selection against a homozygous reces.pdf
International Albinism Awareness Day IAAD, 13 June
International Albinism Awareness Day IAAD, 13 June
Empowering Voices: The Role of Advocacy in Promoting Albinism Health and Well...
Empowering Voices: The Role of Advocacy in Promoting Albinism Health and Well...
Albinism
- 2. Albinism is a congenital disorder characterized by complete or partial absence of pigments in hair , skin and eyes. Albinism is caused by a genetic lack of melanin Melanin is synthesized from the amino acid tyrosine Tyrosinase breaks down tyrosine People with albinism have been passed down a nonfunctional tyrosinase allele, which does not allow them to produce melanin
- 3. TYPES OF ALBINISM In humans there are two main types of albinism: OCULOCUTANEOUS affecting the eyes, skin and hair OCULAR affecting the eyes only.
- 4. SIGNS AND SYMPTOMS Number of visual defects such as photophobia , nystagmus and astigmatism Lack of skin pigmentation making more susceptible to sunburn and skin cancer Absence of normal pigments in eyes resulting in pale blue or red eyes
- 5. GENETICS OF ALBINISM Most forms of albinism are the result of biological inheritance of genetically recessive alleles passed from both parents to an individual. Organisms can be carriers of genes for albinism without exhibiting any traits,albinistic offspring can be produced by two non-albinistic parents.
- 6. If we represent dominant allele for albinism as B and recessive allele as b than we can justify by the help of this test cross that two normal parents can have an albino child: XBXb (Mother) XBY(Father) 1 2 3 4 XBXB XBXb XBY XbY Normal male Affected male Key: Normal female Carrier female
- 7. Albinism in animals Albinism has been observed in many animals also.
- 8. TREATMENT OF ALBINISM There are few possible treatments such as, Ultra violet protective clothing, sunglasses and sunscreen SPF 15 or higher
- 9. INCIDENCE OF ALBINISM The international average for albinism is about 1 in 20,000. There are some incidences where albinism is more than 10 times more prevalent, these take place in south western native American tribes. This is said to be so prevalent due to one single carrier.