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15 Cards in this Set
- Front
- Back
What's the management of Albinism?
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Ocular Problems:
1. Most require HIGH refractive error 2. Tinted lenses helpful for light sensitivity 3. Low Vision (LV) services - May benefit MANY albino patients Systemic Problems: 1. Oculocutaneous albinos have increased risk of BCC & SCC 2. Several systemic syndromes associated with tyrosinase + oculocutaneous albinism, such that hematologic consultations, etc. may be indicated. 3. Genetic counseling may be appropriate. |
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What's the management of Retinitis Pigmentosa (RP)?
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1. NO effective treatment at this point
- Vitamin A controversial, gene therapy? 2. Prognosis varies (with inheritance pattern) - some read throughout life, many end up 20/400. 3. Yearly review for treatable vision loss. - Cataract or CME (responds to oral acetazolamide) 4. Genetic counseling may be indicated 5. Many eventually benefit from LV services. |
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What's the management of Stargardt's Disease?
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1. NO effective treatment at present
2. Prognosis generally poor - initial gradual loss of VA tends to accelerate once hits 20/40 (often stabilizing around 20/200) - those in whom macula initially unaffected may retain good vision until macula becomes involved. - in rare instances, CNV may develop with devastating affect on vision. 3. LV services may be beneficial when there is significant visual loss. |
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What's the management for Progressive Cone Dystrophy?
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OD Management:
1. Correct diagnosis important (despite lack of effective tx) for: - accurate prognosis - avoidance of unnecessary testing/procedures 2. Coordination of low vision services when become necessary for these patients. |
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What's the management for Congenital Stationary Night Blindness?
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OD Management?
1. Only requires proper diagnosis - usually evident from symptoms & signs (if any) - unique ERG may help to confirm 2. NO treatment available 3. Functional impairment primarily limited to scotopic vision (GOOD VA the norm) 4. NO need for further testing or referrals. |
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What are some diagnostic methods for Retinitis Pigmentosa (RP)?
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Diagnosis is based on characteristic collection of signs & symptoms, aided by the following:
1. Visual Fields - Initial mid-peripheral scotoma expands over time 2. Electroretinography (ERG) - Scotopic function reduced early (extinguished late) 3. Dark Adaptometry - prolonged DARK adaptation |
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What are some diagnostic methods for Albinism?
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1. Oculocutaneous albinism usually apparent, as is ocular albinism after SLE & DFE.
2. Hair bulb incubation reveals tyrosinase activity: - Only reliable AFTER age 5. |
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What are some diagnostic methods for Stargardt's Disease?
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1. Presentation of typical macular changes and/or surrounding "flecks" is suggestive
2. FA reveals characteristic "dark choroid" overall, with window defect at macula. 3. EOG usually abnormal (in advanced cases) NOTE: Stargardt's Dz has a characteristic appearance, but if unsure, then use FA. |
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What are some diagnostic methods for Leber's Congenital Amaurosis?
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Must be suspected when infants presented with roving eye movements or nystagmus.
1. Pupils - show little or NO response to light 2. Fundus - may initially appear normal 3. ERG - severely reduced or extinguished |
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A devastating genetic disorder which affects both rods & cones from birth.
- The MOST common genetic cause of vision loss in infants & children. - Blindness at birth (or shortly thereafter) - Diagnosis usually made when parents seek care after noticing "wandering eyes" - Associated with neurological, renal, bone, & endocrine abnormalities |
Leber's Congenital Amaurosis
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What are some diagnostic methods for Progressive Cone Dystrophy?
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Diagnosis based on course of macular/visual deterioration, assisted by:
1) FA may display RPE changes before seen clinically 2) ERG shows abnormal photopic responses |
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A genetic defect affecting CONE photoreceptors primarily.
- Rods are UNAFFECTED or affected less/later than cones (Cone-Rod Dystrophy) - Universally, leads to severe central vision loss (to 20/200 or worse) 1) Color vision also gradually deteriorates 2) Photophobia may follow visual loss 3) NO effective tx present |
Progressive Cone Dystrophy
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What are some SIGNS/SYMPTOMS for Progressive Cone Dystrophy?
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1. Presents in a child/young adult as gradual loss of central/color vision.
2. Macula (normal initially) develops subtle pigmentary changes which may progress to a "Bull's Eye" appearance --> geography atrophy |
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A group of genetic disorders characterized by defective night vision.
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Congenital Stationary Night Blindness
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What are some signs/symptoms for Congenital Stationary Night Blindness?
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- Presents very early in life
- Non-progressive (stable throughout life) - May occur with either a normal/abnormal appearing fundus: 1. Oguchi's Disease - Gold-yellow appearance due to rhodopsin regeneration 2. Fundus Albipunctatus - pinpointed gold dots on fundus |