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A novel congenital Stargardt‐like macular dystrophy
Author(s) -
BITOUN P,
PIPIRAS E,
RIGAUDIERE F,
AUDO I,
MEYER M,
BENZACKEN B,
DELAHAYE A
Publication year - 2009
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2009.2245.x
Subject(s) - macular dystrophy , medicine , ophthalmology , stargardt disease , visual acuity , macular degeneration , abca4 , electroretinography , retinitis pigmentosa , fundus (uterus) , fluorescein angiography , retinal , genetics , biology , gene , phenotype
Purpose Many forms of macular dystrophies have been described including Stargardt disease, dominant Stargardt like disease, Best disease, Carolina macular dystrophy, Bietti’s disease, and age related macular degeneration linked to ABCA4, CFH, C2 and ARMS 2 mutation or predisposing risk alleles. We describe a patient with a novel congenital macular dystrophy presenting with congenital nytagmus and low vision. Methods A 5 year‐old girl presenting with low vision was seen for genetic counseling. She was born at term from consanguineous first cousin parents with nystagmus and corpus callosum agenesis. We report on her complete ophthalmologic neurologic and genetic findings. Results Her visual examination showed distance acuity of 20/200 bilaterally and near acuity of P 4. Her fundus examination showed bilateral oval areas of macular atrophy. Angiography confirmed symetric macular atrophy with Normal autofluorescence. Electrophysiology showed bilateral normal flash ERG and pattern VEP symmetric tracings showing no response to 15° pattern VEP at right and a delayed P100 response at left compatible with macular bundle dysfunction. OCT examination showed complete macular atrophy with thinning of the retina and interruption of the photoreceptor layer. ETDRS Center Macular thickness was 102 microns at right and 92 at left, ETDRS macular volume was 4.65 mm3 at right and 4.32 mm3 at left. ABCA4 testing was negative for mutations. Both parents had normal visual acuity, ERG, VEP and OCT and angiographs. Conclusion This is the first presentation of a Stargardt congenital developmental macular dystrophy with apparently recessive inheritance.