Term
| Mapping of the human genome has allowed us to attempt to intervene in hereditary disease in what 3 ways |
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Definition
Direct gene therapy (replace the genes via viral vectors)
Non-functional Protein replacement
Neuroprotective agents
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Term
| 5 Signs and symptoms of retinal disease that affects RODS first |
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Definition
Loss of night vision
Peripheral field loss
ERG scotopic loss
Photosensitivity
Acuity/color vision affected late |
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Term
| Signs & symptoms of retinal disease that affects the CONES first |
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Definition
Decreased acuity
Central scotoma
ERG Photopic loss
Color Vision affected
Photosensitivity |
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Term
Rods or Cones?
Retinitis Pigmentosa
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Definition
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Term
|
Definition
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Term
|
Definition
|
|
Term
Rods or Cones?
Stargardt's |
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Definition
|
|
Term
Rods or Cones?
Best's Disease |
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Definition
|
|
Term
Rods or Cones?
Achromatopsia |
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Definition
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Term
| Name 2 Juvenile Macular Dystrophies |
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Definition
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Term
| Most common hereditary retinal dystrophy |
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Definition
| Retinitis Pigmentosa Family |
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Term
| Which gene (or gene for which protein) is commonly involved in the retinitis pigmentosa family of diseases |
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Definition
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Term
| 3 Types of Retinitis Pigmentosa |
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Definition
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Term
| Most common type of Retinitis Pigmentosa |
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Definition
|
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Term
| Least severe type of retinitis pigmentosa |
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Definition
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|
Term
| In AR Retinitis Pigmentosa, when is peripheral field and night vision lost? |
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Definition
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|
Term
| In AR Retinitis Pigmentosa when is central vision lost? |
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Definition
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|
Term
| In AD Retinitis PIgmentosa, when do pts lose central vision? |
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Definition
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Term
| What proportion of RP cases are part of a systemic syndrome |
|
Definition
|
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Term
|
Definition
Attenuation of arteries
Waxy optic nerve pallor
Bone spicule pigmentation
Macular Edema in late stages |
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Term
| In RP where does the bone-spicule pigmentation tend to start? |
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Definition
|
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Term
| Describe visual field loss associated with RP |
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Definition
| Ring scotoma due to pigmentation in mid-periphery |
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Term
| How is the lens affected in 50% of RP cases |
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Definition
| 50% develop PSC cataracts |
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Term
| In RP which tends to come first, retinal abnormalities or abnormal scotopic ERG |
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Definition
| ERG shows signs of disease before the retina |
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Term
| The type of RP with no pigmentary changes |
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Definition
|
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Term
| RP Variant that affects the inferior quadrants only |
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Definition
|
|
Term
| RP variant associated with many white flecks scattered on the retina |
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Definition
| Retinitis Punctata Albescens |
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|
Term
| RP variant associated with congenital sensori-neural hearing loss |
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Definition
|
|
Term
| Syndrome that accounts for 50% of deaf-blind individuals |
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Definition
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|
Term
| Name 3 Nutrient supplements that have been shown to slow progression of RP |
|
Definition
Vitamin A Palmitate
Omega-3
Lutein |
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Term
| Which type of tint may help with RP |
|
Definition
| Short-wavelength blocking tints |
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|
Term
| How do short-wavelength blocking tints help RP patients |
|
Definition
Reduce photosensitivity
Slow progression |
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|
Term
| How may short-wavelength tints slow the progression of RP |
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Definition
| Since short wavelength light is not all that useful we can block it out, By blocking it out we reduce the workload of the photoreceptors, thus reducing the waste products they produce. This lowers the workload of the struggling RPE. |
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|
Term
| Results of the clinical trial using lutein in RP patients already taking Vitamin A |
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Definition
Conclusion: Lutein supplementation of 12 mg/d slowed lossof midperipheral visual field on average among nonsmoking adultswith retinitis pigmentosa taking vitamin A.
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Term
| 4 Aspects of Treatment of a pt with RP |
|
Definition
Cataract removal may improve VAs
Treat CME
Consult specialist for prognosis and genetic testing
Low Vision managemet/training for losing even more vision |
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|
Term
| ERG results of Leber's Congenital Amaurosis |
|
Definition
| Severely diminished or absent rod and cone responses |
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|
Term
| How does CSNB affect visual acuity |
|
Definition
| mild acuity reduction (20/30-20/60) |
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|
Term
| Appearance of Retina in CSNB |
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Definition
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|
Term
| Which test is diagnostic of CSNB |
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Definition
| ERG pattern is diagnostic |
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|
Term
| Variant of CSNB found in Japanese populations |
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Definition
|
|
Term
| Disorder where yellow-gray retina color is reversed by 2-3 hours of dark adaptation |
|
Definition
|
|
Term
|
Definition
| Night blindness (Surprise!!) |
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|
Term
| In Cone-Rod dystrophies, which is more affected, the photopic or scotopic ERG |
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Definition
| Neither, they are equally diminished |
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|
Term
| Name 2 syndromes associated with cone-rod dystrophy |
|
Definition
Batten disease
Bardet-Biedl |
|
|
Term
| Dystrophy associated with hyperornithinemia due to deficient enzyme activity |
|
Definition
A choroidal dystrophy, Gyrate dystrophy
|
|
|
Term
| Refractive error associated with Gyrate Dystrophy |
|
Definition
|
|
Term
| Metabolic, autosomal disease that is characterized by RPE and choroidal atrophy that leaves bare sclera |
|
Definition
|
|
Term
| Gyrate dystrophy has a pattern of visual loss similar to which disease |
|
Definition
|
|
Term
| Treatment of Gyrate Dystrophy |
|
Definition
B6 supplements
low protein diet |
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|
Term
| Why does a low protein diet help with Gyrate Dystrophy |
|
Definition
This dystrophy is due to too much ornithine.
Protein contains the precursor to this substance (arginine) |
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|
Term
| Which gender is affected by Choroideremia |
|
Definition
|
|
Term
| In what age range does night blindness and RPE changes occur in Gyrate dystrophy |
|
Definition
|
|
Term
| When does night blindness occur in Choroideremia |
|
Definition
|
|
Term
| X-linked disease characterized by RPE and choroidal atrophy that leaves bare sclera |
|
Definition
|
|
Term
| Early retinal sign of choroideremia |
|
Definition
|
|
Term
| Most common hereditary macular dystrophy |
|
Definition
|
|
Term
| Usual onset of Stargardt's Macular Dystrophy |
|
Definition
| 8-16 years old, onset is poor acuity |
|
|
Term
| In Stargardt's which tends to come first, macular changes or acuity loss |
|
Definition
|
|
Term
| Which disease is associated with Yellow, pisciform flecks in posterior pole |
|
Definition
|
|
Term
| Which characteristic of the posterior pole disappears as Stargardt's begins to progress |
|
Definition
| FLR disappears with RPE mottling |
|
|
Term
| At what age does Stargardt's stabilize and at what acuity |
|
Definition
Early 20's
20/200-20/400 range |
|
|
Term
| How may Stargardt's patients adapt to the circumscribed macular lesions? |
|
Definition
| May learn to eccentrically fixate |
|
|
Term
T/F
In Stargardt's the disease is completely progressive until the entire retina is affected |
|
Definition
| False, stabilizes once it has spread out from the macula a bit, still have most peripheral vision |
|
|
Term
| Variant of Stargardt's where onset is later in life and pisciform lesions are primary presentation |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Genetic inheritance pattern of Best's Dz |
|
Definition
|
|
Term
| 4 Stages of Best's Disease |
|
Definition
Previtelliform
Vitelliform
Pseudohypopyon
Vitelliruptive |
|
|
Term
| Major characteristic of Vitelliform Stage of Best's |
|
Definition
| Lipofuscin deposits coalesce into "Egg Yolk" macula appearance |
|
|
Term
| Timeline of Previtelliform stage of Best's |
|
Definition
|
|
Term
| Timeline of Vitelliform Stage of Best's |
|
Definition
|
|
Term
| Timeline of Vitelliruptive Stage of Best's |
|
Definition
|
|
Term
| Only sign of Previtelliform stage of Best's Dz |
|
Definition
|
|
Term
| Expected VA during Vitelliform stage of Best's |
|
Definition
| Normal VA (oppositeof Stargardt's) |
|
|
Term
| During what stage of Best's does the lesion partially resorb? |
|
Definition
|
|
Term
| Characteristic appearance of Vitelliruptive Stage of Best's |
|
Definition
| Scrambled egg (lesion breaks up) |
|
|
Term
| Expected VA in Vitelliruptive Stage of Best's |
|
Definition
|
|
Term
| The 2 forms of congenital absence of cone function |
|
Definition
Rod Monchromatism
Blue Cone Monochromatism |
|
|
Term
| Inheritance pattern of Rod Monochromatism |
|
Definition
|
|
Term
| Inheritance pattern of S cone Monochromatism |
|
Definition
|
|
Term
|
Definition
Photophobia
Nystagmus
Poor VA
Normal fundus
No Color vision
Severly diminished photopic ERG |
|
|
Term
| Which tint is best for Achromatopsia |
|
Definition
|
|
Term
| Most common appearance of progressive cone dystrophy |
|
Definition
Bull's Eye Macular Lesion
(however sometimes no changes are visible) |
|
|
Term
| Where does VA tend to stabilize after progression of Progressive Cone Dystrophy |
|
Definition
|
|
Term
| Symptom of Progressive Cone Dystrophy not found with Macular Dystrophy |
|
Definition
|
|
Term
| Scotopic ERG in Progressive Cone Dystrophy |
|
Definition
| Normal or Slightly diminished |
|
|
Term
| Age of Onset of Central Areolar Choroidal Dystrophy |
|
Definition
|
|
Term
| 3 Structures progressively involved in Central Areolar Choroidal Dystrophy |
|
Definition
| Choriocapillaris --> RPE--> Retina |
|
|
Term
| ERG results of Central Areolar Choroidal Dystrophy |
|
Definition
| Normal Electrodiagnostics |
|
|
Term
| Affect of Central Areolar Choroidal Dystrophy on Color Vision |
|
Definition
|
|
Term
| Acuity with Central Areolar Choroidal Dystrophy |
|
Definition
|
|
Term
| Which enzyme is involved in amelanosis associated with Albinism |
|
Definition
|
|
Term
| Why are the visual systems of albinos termed bi-ocular rather than binocular |
|
Definition
| Anomalous wiring at the chiasm limits binocularity (no global, may have local if mild) |
|
|
Term
|
Definition
Oculocutaneous
Ocular albinism |
|
|
Term
2 forms of Ocular Albinism
Which is more severe |
|
Definition
X-linked
Autosomal Recessive (more severe) |
|
|
Term
| Oculocutaneous vs. Ocular Albinism, which tends to have worse VAs |
|
Definition
| Oculocutaneous (except may be comparable in AR Ocular form) |
|
|
Term
| Major factor affecting acuity in albinism |
|
Definition
|
|
Term
| How may pts with albinism dampen their nystagmus? |
|
Definition
|
|
Term
| Which type of astigmatism is common in patients with albinism? |
|
Definition
|
|
Term
| Name 5 characteristics of albinism that affect the visual function |
|
Definition
Foveal hypoplasia
Amelanosis of iris and retina
Nystagmus
Strabismus/impaired BV
Astigmatism |
|
|
Term
| Main method of low vision management for macular disease |
|
Definition
|
|
Term
| 2 Methods of Low Vision management in Cone diseases and albinism |
|
Definition
Magnification
Lighting control |
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|
