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 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.
q Colour Vision Deficiency Presented by : Optometrist (intern) Asma Al-Jroudi Saudi Arabia, Riyadh, King Abdulaziz University Hospital 30 Dec 14
2. • What Is Color Vision Deficiency? • Causes Of Color Vision Deficiency • Types Of Color Vision Deficiency • Tretments Of Color Vision Deficiency • Ishihara’s Test • Conclousion
3. What is Colour Blindness? • Color blindness, or color vision deficiency, is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. •This condition results from an absence of color- sensitive pigment in the cone cells of the retina, the nerve layer at the back of the eye.
4. What is Colour Blindness? • Cones are the coulored light receptors in back of the eye: Red light receptors, Blue light receptors and Green light receptors. • Colour blindness occurs when one or more of the cone types are defected.
5. Causes of Color Blindness • Genetic: Many more men are affected than women. • Acquired : Chronic illness, Accidents, Medications and Age.
Pigmentation disorders of skin dermatology revision notesTONY SCARIA
dermatology revision notes for neet pg preparation based on lecture notes with high yield topic & last minute revision notes based on previous year questions
Porphyrias are difficult to diagnose . Here it is comprehensively explained to aid making diagnosis of porphyrias easier for the benefit of medical students and practitioners.
Presented by our respected teacher
Mohammad Siddique (Optometrist)
thank u sir
Final Year Student Of Optometry at ISRA School Of Optometry
All Rights Reserved
q Colour Vision Deficiency Presented by : Optometrist (intern) Asma Al-Jroudi Saudi Arabia, Riyadh, King Abdulaziz University Hospital 30 Dec 14
2. • What Is Color Vision Deficiency? • Causes Of Color Vision Deficiency • Types Of Color Vision Deficiency • Tretments Of Color Vision Deficiency • Ishihara’s Test • Conclousion
3. What is Colour Blindness? • Color blindness, or color vision deficiency, is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. •This condition results from an absence of color- sensitive pigment in the cone cells of the retina, the nerve layer at the back of the eye.
4. What is Colour Blindness? • Cones are the coulored light receptors in back of the eye: Red light receptors, Blue light receptors and Green light receptors. • Colour blindness occurs when one or more of the cone types are defected.
5. Causes of Color Blindness • Genetic: Many more men are affected than women. • Acquired : Chronic illness, Accidents, Medications and Age.
Pigmentation disorders of skin dermatology revision notesTONY SCARIA
dermatology revision notes for neet pg preparation based on lecture notes with high yield topic & last minute revision notes based on previous year questions
Porphyrias are difficult to diagnose . Here it is comprehensively explained to aid making diagnosis of porphyrias easier for the benefit of medical students and practitioners.
Presented by our respected teacher
Mohammad Siddique (Optometrist)
thank u sir
Final Year Student Of Optometry at ISRA School Of Optometry
All Rights Reserved
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
Albinism-Definition : It is congenital disorder characterised by absence or loss of melanin pigment.
Types of melanin.
Benefits of melanin.
Characteristics of Albinism
Types :- ocular and oculocutaneous
Symptoms: pale blue eyes,white hairs ,Nystagmus, photophobia ,decresed VA,
Causes:- Mutation or alteration of gene and Autosomal recessive
Complication in albinism
Management of albinism
signs and symptoms of Albinism
Conduct some basic research on the recessive disorder Albinism.Des.pdfmeerobertsonheyde608
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..
Albinism in humans is sometimes caused by a mutation in the OCA2 gene.pdfarcotstarsports
Albinism in humans is sometimes caused by a mutation in the OCA2 gene. Albinism is a __
while the mutant DNA sequence in the OCA2 gene that causes albinism is a genome; allele
allele; chromosome mutation allele; genome mutation; trait phenotype; genotype
Solution
Albinism is a group of rare genetic disorders and termed as Oculocutaneous Albinism (OCA);
wherein the affected person has little or no color in his skin, hair, or eyes. OCA is termed
because the name of Oculocutaneous genes and classified as OCA; 1, 2, 3 and 4. OCA2 is also
called the type II (tyrosinase-positive) OCA2. It is an autosomal recessive disorder and which is
caused by reduced production of melanin pigment. The mutations related to OCA2 are three
large deletions, six different point mutations and two small in-frame deletions. This mutation
occurs in P gene.
So, the fifth option is correct. Albinism is a phenotype because the disease is observable. And the
mutation is associated to autosomal recessive disorder so, it is genotype. This will express when
two recessive genes come together..
This pdf describes the details of some pathological conditions with their treatment.
some conditions
Albinism,
Aniridia
Coloboma
Corneal dystrophies
Cataract
Dislocated lens
Diabetic retinopathy
Keratoconus
Macular hole
Glaucoma
Myopic degeneration
Nystagmus
Optic trophy
Retnial detachment
Retinopathy of prematurity
Retinitis pigmentosa
Stargardt's disease
Albinism simple PowerPoint presentation for Medical Students. Albino people.
Albinism, its cause, symptoms, inheritance, types, precautions, Biochemical Basis. Picture of Albert Einstein is given to relate with ALBinism as ALBert Einstein. Because Einstein had white skin and white hairs. Just to clear, Einstein didn't had Albinism!
Albinism (autosomal recessive)-a brief medical study martinshaji
this is a rare condition of total loss of melanin content in body , but also this is observed now a days more often so , it is necessary to know about this condition , this study gives a clear idea of albinism
please comment
thank you..
This is a presentation by Dada Robert in a Your Skill Boost masterclass organised by the Excellence Foundation for South Sudan (EFSS) on Saturday, the 25th and Sunday, the 26th of May 2024.
He discussed the concept of quality improvement, emphasizing its applicability to various aspects of life, including personal, project, and program improvements. He defined quality as doing the right thing at the right time in the right way to achieve the best possible results and discussed the concept of the "gap" between what we know and what we do, and how this gap represents the areas we need to improve. He explained the scientific approach to quality improvement, which involves systematic performance analysis, testing and learning, and implementing change ideas. He also highlighted the importance of client focus and a team approach to quality improvement.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
Students, digital devices and success - Andreas Schleicher - 27 May 2024..pptxEduSkills OECD
Andreas Schleicher presents at the OECD webinar ‘Digital devices in schools: detrimental distraction or secret to success?’ on 27 May 2024. The presentation was based on findings from PISA 2022 results and the webinar helped launch the PISA in Focus ‘Managing screen time: How to protect and equip students against distraction’ https://www.oecd-ilibrary.org/education/managing-screen-time_7c225af4-en and the OECD Education Policy Perspective ‘Students, digital devices and success’ can be found here - https://oe.cd/il/5yV
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
How to Split Bills in the Odoo 17 POS ModuleCeline George
Bills have a main role in point of sale procedure. It will help to track sales, handling payments and giving receipts to customers. Bill splitting also has an important role in POS. For example, If some friends come together for dinner and if they want to divide the bill then it is possible by POS bill splitting. This slide will show how to split bills in odoo 17 POS.
Synthetic Fiber Construction in lab .pptxPavel ( NSTU)
Synthetic fiber production is a fascinating and complex field that blends chemistry, engineering, and environmental science. By understanding these aspects, students can gain a comprehensive view of synthetic fiber production, its impact on society and the environment, and the potential for future innovations. Synthetic fibers play a crucial role in modern society, impacting various aspects of daily life, industry, and the environment. ynthetic fibers are integral to modern life, offering a range of benefits from cost-effectiveness and versatility to innovative applications and performance characteristics. While they pose environmental challenges, ongoing research and development aim to create more sustainable and eco-friendly alternatives. Understanding the importance of synthetic fibers helps in appreciating their role in the economy, industry, and daily life, while also emphasizing the need for sustainable practices and innovation.
The Roman Empire A Historical Colossus.pdfkaushalkr1407
The Roman Empire, a vast and enduring power, stands as one of history's most remarkable civilizations, leaving an indelible imprint on the world. It emerged from the Roman Republic, transitioning into an imperial powerhouse under the leadership of Augustus Caesar in 27 BCE. This transformation marked the beginning of an era defined by unprecedented territorial expansion, architectural marvels, and profound cultural influence.
The empire's roots lie in the city of Rome, founded, according to legend, by Romulus in 753 BCE. Over centuries, Rome evolved from a small settlement to a formidable republic, characterized by a complex political system with elected officials and checks on power. However, internal strife, class conflicts, and military ambitions paved the way for the end of the Republic. Julius Caesar’s dictatorship and subsequent assassination in 44 BCE created a power vacuum, leading to a civil war. Octavian, later Augustus, emerged victorious, heralding the Roman Empire’s birth.
Under Augustus, the empire experienced the Pax Romana, a 200-year period of relative peace and stability. Augustus reformed the military, established efficient administrative systems, and initiated grand construction projects. The empire's borders expanded, encompassing territories from Britain to Egypt and from Spain to the Euphrates. Roman legions, renowned for their discipline and engineering prowess, secured and maintained these vast territories, building roads, fortifications, and cities that facilitated control and integration.
The Roman Empire’s society was hierarchical, with a rigid class system. At the top were the patricians, wealthy elites who held significant political power. Below them were the plebeians, free citizens with limited political influence, and the vast numbers of slaves who formed the backbone of the economy. The family unit was central, governed by the paterfamilias, the male head who held absolute authority.
Culturally, the Romans were eclectic, absorbing and adapting elements from the civilizations they encountered, particularly the Greeks. Roman art, literature, and philosophy reflected this synthesis, creating a rich cultural tapestry. Latin, the Roman language, became the lingua franca of the Western world, influencing numerous modern languages.
Roman architecture and engineering achievements were monumental. They perfected the arch, vault, and dome, constructing enduring structures like the Colosseum, Pantheon, and aqueducts. These engineering marvels not only showcased Roman ingenuity but also served practical purposes, from public entertainment to water supply.
1.4 modern child centered education - mahatma gandhi-2.pptx
Albinism presantation
1.
2. What isAlbinism? Albinism(from Latin albus ‘’white’’) is a congenital disorder characterised by the partial or complete absence of the pigment in the skin,hair,eyes due to absence or defect of an enzyme involved in the production of melanin(pigment) . Albinism results from inheritance of recesssive gene alleles. Albinism is known to affect all vertebrates(including humans). Albino patients
3. Albinism classification in humans There are two main categories of albinism in humans:- Oculocutaneous albinism (OCA)– This type of albinism is characterised by lack of pigments in eyes,skin,hair . It is of 4 types-OCA1(OCA1A,OCA1B), OCA2. OCA3,OCA4. Ocular albinism(0A)- People having ocular albinism only lacks pigment in the eyes.They usually have normal skin and hair color,although its typically lighhter than either parent.
4. Oculocutaneous albinism type1(OCA1)- It is tyrosinase – related albinism results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change amino acid tyrosine into the pigment. There are two subtypes of OCA1(OCA1A and OCA1B). OCA1A- In OCA1A,The enzyme is inactive and no melanin is produced,leading to white hair and very light skin. OCA1B-In OCA1B,The enzyme is minimally active and a small amount of melanin is produced,leading to hair that may darken to blonde,yellow/orange or even light brown,as well as slightly more pigment in the skin. Oculocutaneous albinism type2(OCA2)-It is a P-gene albinism results from a genetic defect in the p-protein that helps the tyrosinase enzyme to function.Individuals with OCA2make a minimal amount of melanin pigment and can have hair color ranging from very light blonde to brown.
5. Oculocutaneous albinism type3(OCA3)-It is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment. Oculocutaneous albinism type4(OCA4)-It results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function.Individuals with OCA4 make a minimal amount of melanin pigment similar to persons withOCA2.
6.
7. Ocular albinism(OA1)- It is caused by a change in the GPR143 gene that plays a signalling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on X chromosome. Female has 2 copies of X chromosomes while males have only one copy(another Y). To have Ocular albinism, a male only need to inherit one changed copy of the gene for ocular albinism from his carrier mother. Therefore almost all the people with OA1 are males. NOTE- If female child is said to have ocular albinism, their parents should be suspicious.while possible if the mother is a carrier of ocular albinism and father has ocular albinism,it is extremely rare case.
9. Vision rehabilitation Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include: Nystagmus- Regular horizontal back and forth movement of the eyes. Strabismus- Muscle imbalance of the eyes “crossed eyes”(esotreopia) “lazy eye” or an eye that deviates out(exotropia). Photophobia- Sensitivity to bright light and glare. Refractive error- People with albinism may be either farsighted or near sighted and usually have astigmatism. Fovea hypoplasia- The retina , the surface inside the eye that receives light,does not develop normally before birth and in infancy. Optic nerve misrouting- The nerve signals from the retina to the brain does not follow the usual nerve routes.In albinistic patients, light can pass through the iris as well due to lack of pigment.
10. Visual modifications The human eye normally produces enough pigment to color the iris and lend opacity to the eye.however, there are cases in which eyes of an albinistic patients appear red or purple depending upon the amount of pigment present. This visual problems associated with albinism arise from a poorly developed Retinal Pigment Epithelium(RPE) due to lack of melanin.
12. Skin modifications Most albinistic humans appear white or very pale as the melanin pigments responsible for brown,black colorations are not present.Because they lack the dark pigment melanin, which helps protect the skin burn more easily from overexposure. The albinistic are generally healthy as the rest of the population with growth and development occurring as normal, and albinism by itself does not cause mortality, although the lack of pigment increases the risk of skin cancer and other related problems.
