Ischemic condition affecting the eye.
The ischemia can occur secondary to systemically problem [or] particulary the eye.
Many retinal vascular disorders {like CRAO,CRVO,Diabetic retinopathy,Hypertensive Retinopathy} shows ischemic signs.
Ischemic condition affecting the eye.
The ischemia can occur secondary to systemically problem [or] particulary the eye.
Many retinal vascular disorders {like CRAO,CRVO,Diabetic retinopathy,Hypertensive Retinopathy} shows ischemic signs.
glaucoma of the childhood: classification , development of angle structure. pathogenesis, primary infantile glaucoma, differential diagnosis.... rest will be continued in other presentations of mine
Overview of glaucoma from an engineering perspective for ophthalmologic technology used for diagnosis, disease management and eventually for personalized medicine.
External download link: https://www.dropbox.com/s/i7qmd5ecj8c247x/glaucoma_overview.pdf?dl=0
Retinitis pigmentosa is rare heritable diseases which affect photoreceptor and make the patient unable to see normally in dimlight then loss of vision.
PREMATURE AGING SYNDROMES AND THEIR CLINICAL MANIFESTATIONSDR. MOHNISH SEKAR
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increased risk to develop chronic ailments. Premature aging syndromes, also known as progeroid syndromes, recapitulate many clinical features of normal aging and offer a unique opportunity to elucidate fundamental mechanisms that contribute to human aging. Progeroid syndromes can be broadly classified into those caused by perturbations of the nuclear lamina, a meshwork of proteins located underneath the inner nuclear membrane (laminopathies); and a second group that is caused by mutations that directly impair DNA replication and repair.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
2. • Primary glaucomas with associated abnormalities
• All of the primary glaucomas that have associated
ocular abnormalities to be forms of anterior
segment dysgenesis.
• Neurocristopathies
• Anterior segment dysgeneses are attributed to
defects in neural crest migration or differentiation
3. 1. IRIDODYSGENESIS
a. Aniridiab
b. Congenital iris ectropion syndrome
c. Iridotrabecular dysgenesis (iris
hypoplasia)
2. CORNEODYSGENESIS
(IRIDOCORNEODYSGENESIS)
a. Axenfeld-Rieger anomaly
b. Peters anomaly
d. Sclerocornea
e. Congenital hereditary endothelial
dystrophy
f. Posterior polymorphous dystrophy
g. Megalocornea
5. Axenfeld-Rieger Syndrome
• Three Eponyms:
(A) Axenfeld Anomaly :
Limited to peripheral anterior segment defects
(B) Rieger Anomaly:
Peripheral abnormalities with additional
changes in the iris
(C) Rieger Syndrome:
Ocular anomalies plus systemic developmental
defects
6. 1. Partial retention of the primordial endothelium (e) on the iris (i)
and anterior chamber angle (aca);
2. Incomplete posterior recession of peripheral uvea from
trabecular meshwork (tm);
3. Abnormal differentiation between corneal and chamber angle
endothelium with a prominent, anteriorly displaced schwalbe
line (SL).
4. Development of tissue strands from retained endothelium
crossing the anterior chamber angle
7. • Anterior Chamber Cleavage Syndrome
• Mesodermal Dysgenesis Of The Cornea And
Iris
8. • Contraction of retained endothelium with iris changes of
corectopia (c), ectropion uvea (eu), and iris atrophy (ia), which may
continue after birth; a tissue strand (ts) can also be seen.
• Incomplete development of trabecular meshwork and Schlemm
canal (SC); continued traction on the iris with possible secondary
ischemia leads to hole formation (h).
9. General Features
• Bilateral
• Frequent family history of the disorder, with an
autosomal dominant mode of inheritance
• No sex predilection
• Frequent systemic developmental defects
• High incidence of associated glaucoma
• Age :birth to adulthood, with most cases recognized in
infancy or childhood
10. Ocular Features
CORNEA
• Prominent, anteriorly displaced
schwalbe line.
• White line on the posterior
cornea near the limbus.
• Incomplete, usually limited to
the temporal quadrant;
Sometimes 360 degree ; only
gonioscopic finding
• Occasional variation in the
overall size (i.e, Megalocornea
or, less often, microcornea) or
shape of the cornea
• Congenital opacities of the
central cornea
11. • Anterior Chamber Angle
• Gonioscopic examination;
1. Prominent schwalbe line
2. Iridocorneal adhesions
3. The anterior chamber angle is open and the trabecular
meshwork is visible, but the scleral spur is typically obscured
by peripheral iris, which inserts into the posterior portion of
the meshwork
12. •Iris
• Mild stromal thinning to
marked atrophy with hole
formation,
• Corectopia
• Ectropion uveae.
• When corectopia is present,
the pupil is usually displaced
toward a prominent
peripheral tissue strand the
atrophy and hole formation
typically occur in the
quadrant away from the
direction of the corectopia.
13.
14. Other ocular abnormalities
• Strabismus
• Limbal dermoids
• Corneal pannus
• Cataracts
• Congenital ectropion uveae
• Congenital pupillary-iris-lens membrane
• Peripheral spokelike transillumination defects of the iris
• Retinal detachment
• Macular degeneration
• Chorioretinal colobomas
• Choroidal hypoplasia
• Hypoplasia of the optic nerve heads
15. • Glaucoma
• More than one half of the patients with the
axenfeld-rieger syndrome develop glaucoma.
• Childhood or young adulthood.
• The high insertion of peripheral iris into the
trabecular meshwork, appears to be more
pronounced in those eyes with glaucoma
• The proposed mechanism of glaucoma in
these cases relates to abnormalities of the
trabecular meshwork and schlemm canal
21. Peters Anomaly
• Defect in the neural crest cell migration in the 6 – 8th
wk of fetal development
• Present at birth
• Usually bilateral
• Most cases are sporadic/autosomal recessive/
autosomal dominant transmission
• Defects of the ear and auditory system, orofacial
system, heart, genitourinary system, spine, and
musculoskeletal system
• Can be caused by mutation in the PAX6, PITX2,
CYP1B1, or FOXC1
22. Clinicopathologic Features
• Central corneal
abnormality : hallmark
1. Defect in the descemet
membrane and
corneal endothelium
with thinning and
opacification of the
corresponding area of
corneal stroma
2. Iris adhesions
3. Bowman layer absent
centrally
23. I. In Peters anomaly not associated with
keratolenticular contact or cataract
II. Peters anomaly associated with
keratolenticular contact or cataract
III. Peters anomaly associated with Axenfeld-
Rieger syndrome
24.
25.
26. Glaucoma
• 50% pts
• Infantile glaucoma
• Mechanism:
o Peripheral anterior synechiae formation
o Incomplete development of trabecular
meshwork and schlemm canal
27. Systemic association
• Craniofacial anomalies
• CNS anomalies
• Fetal alcohol syndrome
• Chromosomal abnormaalities
• ‘peter plus’ syndrome:
o Short-limbed dwarfism
o Cleft lip/palate
o Learning difficulties
28. D/D
o Other Causes of Central Corneal Opacities in
Infants:
• PCG
• birth trauma
• MPS
• congenital hereditary endothelial dystrophy.
o Posterior Keratoconus
o Congenital Corneal Leukomas and Staphylomas
29. ANIRIDIA
• Aniridia is a bilateral developmental disorder
characterized by the congenital absence of a normal
iris.
• Abnormal neuroectodermal development
31. Clinicopathologic Features
Iris
• Aniridia: variable
severity
• Iris and retinal
fluorescein : abnormal
iris vascular
remodeling that
resulted in incomplete
iris collarettes and
decreased retinal
foveal avascular zones
32. Lids:MGD
Cornea:
• Corneal pannus and
opacity begin in the
peripheral cornea
• Microcornea ,
sclerocornea
• Iridocorneal and
keratolenticular
adhesions
• High CCT
• Epibulbar dermoid
34. Fundus
• Foveal Hypoplasia, optic nerve hypoplasia, choroidal
coloboma
• Poor visual acuity and nystagmus
• Spectral-domain OCT can be used to confirm the presence of
foveal hypoplasia in eyes with aniridia, and this correlates well
with visual acuity independent of the iris rim width
35. Glaucoma
• 75% Pts
• late childhood and adolescence
Mechanism: synechial angle closure
secondary to the pulling of the rudimentary
iris tissue by contraction of pre exsisting
fibres
Glaucoma in aniridia usually develops after
rudimentary iris stump rotates anteriorly to
progressively cover the trabecular
meshwork
36. Other ocular and systemic association
• Choroidal colobomas
• Persistent pupillary membranes
• Sclerocornea
• Hallermann-streiff syndrome
• Small optic nerve heads
• Strabismus
• Ptosis
• Marfan syndrome with cervical ribs ,dental anomalies,
Tracheomalacia and delayed closure of the anterior
fontanelle
• Retinoblastoma
44. Trisomy 21:
Down Syndrome
• Mental retardation and
atypical facies.
• Ocular findings :epicanthus,
blepharitis, nystagmus,
strabismus, light-colored
and spotted irides,
keratoconus, cataracts, and
congenital glaucoma in
infancy, with the typical
findings of PCG
45. Trisomy 13-15: Trisomy D
Syndrome
• Mental retardation, deafness, heart disease,
and motor seizures
• Ocular findings: microphthalmia, coloboma
with cartilage, congenital cataracts, retinal
dysplasia, persistent fetal vasculature, and
dysembryogenesis of the anterior chamber
angle Glaucoma
Trisomy 18: Edwards Syndrome
• Anterior position of the iris obstructing the
anterior chamber angle
46. XO: Turner Syndrome
• short stature,
• postadolescent females with sexual
infantilism and multiple systemic anomalies.
• Ocular findings:
ptosis, epicanthus, cataract, strabismus, blue
sclera, corneal nebulae, and color blindness
Developmental glaucoma is rarely associated
48. Cystinosis
• Autosomal recessive metabolic disorder
• Characterized by widespread accumulation of
cystine crystals in ocular and nonocular tissues
• Mutation in the gene encoding cystinosin
(CTNS: 17p13)
• Pupillary block glaucoma caused by the
cystine accumulation in the iris stroma
49. Hepatocerebrorenal Syndrome:
Zellweger Syndrome
Multisystem congenital disorder characterized by
• central nervous system abnormalities
• Hepatic interstitial fibrosis
• Renal cysts
Ocular findings :
• Nystagmus
• Corneal clouding
• Cataracts
• Retinal vascular and pigmentary abnormalities,
• Optic nerve head lesion
• Congenital glaucoma :iridocorneal adhesions may be the
mechanism of the glaucoma
50. Hallermann-streiff syndrome
• Micrognathia and dwarfism
• Ocular findings:
• Cataracts
• Microphthalmos.
• Glaucoma may also occur because of absorption of lens
material or associated aniridia or after cataract surgery
Kniest dysplasia
• Metatropic dwarfism
• Autosomal dominant inheritance
• Mutations in the COL2A1 gene
• Congenital glaucoma
51. Lowe syndrome
• Oculocerebrorenal syndrome
• Autosomal recessive/x-linked disorder
• Mental retardation, renal rickets, aminoaciduria,
hypotonia, acidemia,irritability.
• Cataract
• Glaucoma :secondary to removal of concurrent
congenital cataracts. Anterior insertion of the iris,
narrowing of the ciliary body band, and decreased
visibility of the scleral spur
• Microphthalmia, strabismus, nystagmus, miosis, and
iris atrophy.
52. 13-year-old boy with Lowe syndrome and glaucoma controlled
with medication use. He has aphakia in both eyes after
removal of congenital cataracts, and has small stature,
developmental delay, and esotropia.
53. Mucopolysaccharidoses
• The MPS constitute a group of inherited disorders
caused by deficiency of specific lysosomal enzymes
needed for the degradation of glycosaminoglycans,
or mucopolysaccharides
• The accumulation of partially degraded
glycosaminoglycans causes interference with cell,
tissue, and organ function.
54. • Hurler syndrome
• autosomal recessive disease with central nervous
system, skeletal, and visceral abnormalities
• ocular finding :
1. corneal clouding
2. Glaucoma has also been reported in Hurler
syndrome and was thought to result from
mucopolysaccharide-containing cells in the
aqueous outflow system
3. open-angle glaucoma
4. IOP returned to normal after bone marrow
transplantation
55. • Patients with mucopolysaccharidosis type
VI, the Maroteaux-Lamy syndrome
• Acute or chronic angleclosure glaucoma,
due to increased thickness of the peripheral
cornea than with pupillary block
56. Nail-Patella Syndrome
• dysplasia of the nails and absent or hypoplastic
patella as cardinal features, has been associated with
open-angle glaucoma.
Oculodentodigital Dysplasia
• hypoplastic dental enamel, microdontia, bilateral
syndactyly, and a characteristic thin nose.
• Glaucoma: mild developmental abnormalities of the
anterior chamber angle
• autosomal dominant mutation in the connexin-43
gene (CJA1, gene locus 6q21)
57. Prader-Willi Syndrome
• Muscular hypotonia, hypogonadism, obesity, and mental
retardation
• Abnormality of chromosome 15.
• Ocular findings: oculocutaneous albinism and congenital
ectropion uveae, which may be associated with open-angle
glaucoma
Rubinstein-Taybi Syndrome
• mental and motor retardation
• typical congenital skeletal deformities with characteristically
large, broad thumbs and first toes
• Ocular findings: bushy brows, hypertelorism, epicanthus,
antimongoloid slant of eyelids, and hyperopia,Infantile or
juvenile glaucoma(open angle)
• autosomal dominant
58.
59. Stickler Syndrome
• Hereditary progressive arthroophthalmopathy
• An autosomal dominant connective tissue dysplasia,
• Characterized by ocular, orofacial, and generalized
skeletal abnormalities
• Ocular manifestations :
o High myopia
o Open-angle glaucoma
o Cataracts
o Vitreoretinal degeneration,
o Retinal detachment
o Numerous iris processes, suggestive of a developmental
abnormality of the angle neovascular glaucoma
60.
61. • Three forms of Stickler syndrome
1. Type I :mutation in the COL2A1 gene
2. Type II :mutation in the a1-polypeptide of collagen
XI (COL11A1)
3. Type III :mutations in the collagen, type XI, alpha 2
gene (COL11A2)
62. • Wagner syndrome :mutation in the gene
encoding chondroitin sulfate proteoglycan-2
(CSPG2) a proteoglycan found in the
vitreous
• Marshall syndrome: mutations in the
COL11A1 gene
• Weissengacher-Zweymuller syndrome :
o also called Pierre Robin syndrome
o fetal chondrodysplasia mutation in the
COL11A2 gene (as in Stickler syndrome type
III).
63.
64. Waardenburg Syndrome
• autosomal dominant disorder
• lateral displacement of the medial canthi;
• hyperplasia of the medial brows;
• a prominent, broad root of the nose;
• sectorial or complete iris heterochromia;
• congenital deafness and a white forelock
• defect of neural crest-derived tissues and is caused
by a mutation in the PAX3 gene (gene map locus
2q35,
• Open-angle glaucoma
65. Walker-Warburg Syndrome
• Hydrocephalus (H)
• Agyria (A)
• Retinal Dysplasia (RD)
• With or without Encephalocele (±E),
• Multiple eye abnormalities have been reported, including congenital
glaucoma
Cockayne Syndrome
• Autosomal recessive disorder
• Characterized by dwarfism and birdlike facies.
• Ocular manifestations
• “salt and pepper” retinopathy
• Cataracts
• Corneal ulcers or opacities
• Nystagmus
• Hypoplastic irides
• Irregular pupils