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angelletta
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RDS/peripherin gene is associated with what dz?
- Cone Rod Dystrophy
- RP
- Pattern Dystrophy
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Rhodopsin is associated with what disorders?
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CRX cone rod homeobox containing gene is associated with?
- Leber Congential Amaurousis
- COne Rod Dystrophy
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Diseases associated with Negative Wave forms
A wave normal but b wave doesnt not return to isoelectric point
- X-linked Retinoschisis
- CSNB
- Enhanced S cone syndrome (Goldman Favre)
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Nonrecordable ERG
- Lebers Congential Amarousis
- RP
- Retinal aplasia
- Total RD
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Define Retinitis Pigmentosa
- Hereditary disorder involving photoreceptor and pigment epithelial function with
- progressive VF loss and abnormal ERG
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Name the key finding in Retinitis Pigmentosa.
- Pallor waxy of optic disc
- inheritance pattern --varied
- gone loss of foveal light reflex
- macular edema (CME)
- epiretinal membrane
- night blindness
- total loss of ERG rod and cone signals
- posterior subcapsular cataracts
- spicules bone
- attenuated blood vessels
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What does the macular edema in RP respond to?
Acetazolamide
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Dx of RP
- Old vascular occlusion
- diffuse uveitis
- syphilis
- paraneoplastic syndrome
- retinal drug toxicity
- Vit a toxicity
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Name the 6 RP variants and describe each one.
- Sine pigmento-
- Lebers congenital amaurosis-infantile form of RP
- Sectoral RP- 1 -2 sectors of pigment changes with abnormal VF
- Unilateral RP-rare
- Reverse RP-macular bone spicules
- Retinitis Punctata-small white dots in periphery, no bone spicules
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Inheritance patterns frequency in RP
MCC-
Least common-
Most severe-
- MCC- AR
- Least common-x linked
- Most severe-AD
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Lebers Congenital Amaurosis -define the below characteristics:
-Vision
-ERG
-Inheritance
- Vision- reduced from birth
- ERG-undetectable rod/cone
- Inheritance- AR
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Lebers Congenital Amaurosis -define the below characteristics:
-symptoms
-intelligence
-fundus
- symptoms-oculodigital reflex to ellicit/wondering nystagmus, poor vision
- intelligence-normal
- fundus early: wnl late: subretinal black pigments clumps/bone spicules
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Dx of bulls eye maculopathy (8)
- ARMD
- Batton Dz Ceroid Lipofuscinosis
- Cone and cone rod Dystrophy
- Chloroquine Toxicity
- Chronic macular hole
- Central Areolar Choridal dystrophy
- Olivopontocerebellar dystrophy
- Stargarts Dz
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Cone Dystropy
symptoms
ERG findings
Fundus
- Symptoms
- poor color vision
- poor daytime vision
- progressive central vision loss
- ERG-loss of cone signs
- Fundus-
bulls eye maculopathy
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