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Ch 9 Hereditary Retinal/Chorodial Dystrophy
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RDS/peripherin gene is associated with what dz?
Cone Rod Dystrophy
RP
Pattern Dystrophy
Rhodopsin is associated with what disorders?
CSNB
RP
CRX cone rod homeobox containing gene is associated with?
Leber Congential Amaurousis
COne Rod Dystrophy
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)
Nonrecordable ERG
Lebers Congential Amarousis
RP
Retinal aplasia
Total RD
Define
Retinitis Pigmentosa
Hereditary disorde
r involving
photorecepto
r and
pigment epithelial function
with
progressive VF
loss and
abnormal ERG
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
What does the macular edema in RP respond to?
Acetazolamide
Dx of RP
Old vascular occlusion
diffuse uveitis
syphilis
paraneoplastic syndrome
retinal drug toxicity
Vit a toxicity
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
Inheritance patterns frequency in RP
MCC-
Least common-
Most severe-
MCC- AR
Least common-x linked
Most severe-AD
Lebers Congenital Amaurosis -define the below characteristics:
-Vision
-ERG
-Inheritance
Vision- reduced from birth
ERG-undetectable rod/cone
Inheritance- AR
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
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
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
Author
angelletta
ID
111981
Card Set
Ch 9 Hereditary Retinal/Chorodial Dystrophy
Description
Hereditary Retinal/Chorodial Dystrophy
Updated
10/25/2011, 6:10:19 AM
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