Ocular Manifestations of Inborn Errors of Metabolism
Fig. 13.1 Sir Archibald Garrod’s one gene-one enzyme hypothesis . A genetic defect leads to an enzyme deficiency which affects a step in the metabolic pathway. This leads to accumulation…
Ocular Manifestations of Pediatric Rheumatic Diseases
Juvenile rheumatoid arthritis (JRA) Juvenile chronic arthritis (JCA) Minimum duration arthritis ≥6 weeks ≥3 months Subtypes Systemic Systemic Pauciarticular Pauciarticular Polyarticular Polyarticular Juvenile rheumatoid arthritisa Juvenile psoriatic arthritis Juvenile anklyosing…
Ocular Manifestations of Dermatologic Diseases
Type Gene Gene product Prevalence OCA 1 (A and B) TYR Tyrosinase 1/40,000 OCA 2 OCA2 P Protein 1/36,000 (Caucasians) 1/3900–10,000 (Africans) OCA 3 TYRP1 Tyrosinase-related protein I 1/8500 (Africans)…
Ocular Manifestations of Musculoskeletal Disorders
System Feature Cardiovascular Aortic root dilation Greater propensity to aneurysm rupture Mitral and tricuspid valve prolapse Aortic and pulmonary valve insufficiency Congestive heart failure Dysrhythmia Calcification of mitral annulus Musculoskeletal…
Normal Postnatal Ocular Development
Method OKN VEP Preferential looking (tellar cards) Otago photoscreener Full term newborn 20/400 20/100–20/200 20/200–20/545 – 2–3 months 20/400 20/80 20/285 20/20–20/25 4 months 20/200 20/80 20/167 – 5–6 months 20/100…
Oculofacial Manifestations of Chromosomal Aberrations
Fig. 6.1 Normal Male Karyotype : 46, XY (courtesy of Genomic Pathology Program at Thomas Jefferson University Hospital) Fig. 6.2 FISH panel for chronic lymphocytic leukemia (CLL) : Results from…
Ocular Manifestations of Prematurity
Gestational age (weeks) Central comeal thickness (μm) Horizonta corneal diameter (mm) 30–32 Mean 691 8.0 SD 87 0.2 34–35 Mean 648* 8.5* SD 72 0.3 37–38 Mean 605* 8.9* SD…
Ocular Manifestations of Infectious Diseases
Fig. 12.1 Purulent conjunctivitis due to gonorrhea infection Diagnosis For ocular disease, culture from conjunctival exudates is the gold standard for diagnosis of gonoccal infections. Colonies grow within 24–48 h of…
Hematologic Disorders of the Eye
Fig. 11.1 Angioid streaks. Note the “star like” hypopigmented areas surrounding the optic nerve, courtesy of Edward Chaum, M.D. Ph.D. The pathogenesis of angioid streaks is poorly understood, especially in…
Ocular Manifestations of Systemic Syndromes
Fig. 21.1 Adams-Oliver syndrome . Terminal transverse limb defect in AOS: The toes are reduced to stubs (Photo courtesy Dr. P. Vijayalakshmi, Aravind Eye Care System, Madurai) Neurological Manifestations Neurological…
