Macular Dystrophies Ch 9
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Most common cause of central vision loss in adults (hereditary macular dystrophy) under age 50
Genes responsible for Stargardts and what does it encode?
Name some other genes
- encodes an ATP binding cassette (ABC) transporter protein expressed by outer rod segments
- RDS/peripherin gene
Describe fundus appearance of Stargarts
- yellow round pisciform flecks at level of RPE
- beaten bronze central macular appearing like bulls eye maculopathy
What does the FA look like in Stargarts and why
Dark choriod, due to lipofuscin accumulation in the RPE
Best's Disease inheritance pattern
Best disease gene mutations, chromosome and abnormality
- gene- VMD2 bestrophin gene
- chromosome- 11
- abnormality- plasma membrane of RPE affecting transmembrane chloride channel leading to lipofusion accumulation secondary to abnormal ion flux
What is a complication of Best's Dz
CNV leading to loss of vision
ERG and EOG in Best's Disease.
What is the Arden ratio? What is a normal value?
- ERG: normal
- EOG: abnormal
- Best Dz: Arden ratio <1.5
- Normal Arden ratio 1.85
What is a dz similar to Best's Dz, but occurs in adults?
Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
Age of onset of Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
EOG finding in Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
What can develop in patients with cuticular basal laminar drusen?
Vitelliform exudative macular detachments
Name the 2 types of Familial Autosomal Dominant Drusen
- Doynes's Honeycomb Dystrophy
- Malattia Levntinese
Familial Autosomal Dominant Drusen gene and chromosome
Familial Autosomal Dominant Drusen findings
various basal laminar or cuticular drusen beyond the vascular arcades and nasal to optic disc
What characterized the Pattern Dystrophies?
group of dz with central pigmentary disturbances with at the level of RPE in macular area
Name the 4 types of PATTERN DYSTROPHIES
- ADULT ONSET FOVEOMACULAR VITELLIFORM
- FUNDUS PULVERULENTIS
1. ERG/ EOG in PATTERN DYSTROPHY
2. GENE AFFECTED
- NORMAL- ERG
- ABNORMAL- EOG except in Adult vitelliform
PATTERN DYSTROPHIES symptoms
- -decreased visual acuity
-versus asymptomatic with unususal macular lesion with risk of CNV in the future
What dz is characterized by bilateral CNV prior to age 40
Sorsby Macular Dystrophy
Name the following in Sorsby Macular Dystrophy
- Gene TIMP3
- Chromosome 22
- Defect: tissue inhibitor of metalloproteinase involving extracellar matrix remodeling
Fundus finding in Sorsby Macular Dystrophy
- early: fine drusenlike deposits or confluent plaque of faintly yellow material beneath the RPE of posterior pole
- mid-GA with pigment clumps
- late- CNV disciform scar
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