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Albinism/Phakomatose
Ocular manifestations of Albinism and Phakomatoses
| Question | Answer |
|---|---|
| Autosomal recessive albinism types | Oculocutaneous Albinism (1, 2, and 3)<br> Chediac-Higashi Syndrome<br> Hermansky-Pudlak Syndrome<br> |
| X-Linked albinism types | Ocular albinism |
| Oculocutaneous Albinism characteristics: Type 1 vs. 2. vs. 3 | Type 1 = Complete Absence of Pigment<br> Type 2 = Less pigment loss<br> Type 3 = Minimal pigment loss<br> |
| Oculocutaneous Albinism inheritance type | autosomal recessive |
| Oculocutaneous albinism: Mechanism of reduced VA and nystagmus | misrouting of optic nerve fibers from retina to brain<br>more fibers cross over than should |
| Oculocutaneous Albinism: signs and symptoms | lack of pigment in hair, skin, and eyes (varying loss by type)<br> photophobia<br> reduced VA because of underdeveloped macula<br> nystagmus<br> |
| Chediak-Higashi Syndrome: signs and symptoms | moderate to complete pigment loss in hair, eyes, and skin<br> Hair usually has a distinct, silvery, metallic sheen<br> Increased bleeding and infections as patient ages<br> |
| Chediak-Higashi Syndrome: mode of inheritance | autosomal recessive |
| Hermansky-Pudlak Syndrome: mode of inheritance | autosomal recessive |
| Hermansky-Pudlak Syndrome: signs and symptoms | variable amount of depigmentation<br> iris transillumination defects<br> nystagmus<br> strabismus<br> serious bleeding disorders throughout life <br> severe photophobia <br> reduced VA<br> high refractive error<br> |
| Hermansky-Pudlak Syndrome: indicated tests for suspects | platelet aggregation bleeding time platelet electron microscopy |
| Ocular Albanism: mode of inheritance | X-linked recessive |
| Hermansky-Pudlak Syndrome associated with what nationality? | Puerto Ricans |
| Hermansky-Pudlak Syndrome defined | Oculocutaneous Albinism with pseudohemophilia |
| Neurofibromatosis: mode of inheritance | autosomal dominant |
| Neurofibromatosis Type 1: signs | cafe au lait spots on trunk and extremities that increase in size with age<br>yellowish or brown spots under arms or in groin area<br>Lisch nodules (brown lumps) on 90% of patients<br><b>15-40% have optic nerve gliomas that may interfere with vision</b> |
| Bilateral optic gliomas are pathognomonic for what condition? | Neurofibromatosis Type 1 |
| Sturge-Weber Syndrome a.k.a.? | encephalotrigeminal angiomatosis |
| Sturge-Weber Syndrome: signs | Port wine stains<br>seizures<br>headaches<br>mental delays secondary to swelling of meninges<br> |
| Sturge-Weber Syndrome: associated ocular conditions | glaucoma on side of body with port wine stain<br> |
| Von Hippel Landau disease: mode of inheritance | autosomal dominant (50% of all offspring will have disease) |
| Von Hippel Landau disease: signs | hemangioblastomas of retina and CNS<br>endolymphatic sac tumors<br>pancreatic cysts and tumors<br>renal cell carcinomas<br>tortuous veins secondary to increased pressure |
| Von Hippel Landau disease: etiology | mutation on chromosome 3 |
| Tuberous sclerosis: mode of inheritance | autosomal dominant |
| Tuberous sclerosis: signs | seizures<br>mental retardation<br>benign skin and eye tumors (also on other organs) |
| Wyburn-Mason syndrome: mode of inheritance | *not inherited* but congenital<br>no prediliction for race or sex |
| Wyburn-Mason syndrome: signs | arteriovenous (AV) malformations CNS *and* the retina<br>If only in eye, called A-V shunt |
Created by:
lastscout
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