Dr.BHAVISHYA SAMUDI ELAMPURANAM

Dr. UMA RAMALINGAM, Dr.Praveena Venkatakrishnan

Abstract

Stargardt disease, an autosomal recessive juvenile macular dystrophy, characterised by accumulation of lipofuscin within the retinal pigment epithelium is caused by mutation in ABCA4 gene. We present a case of a 26 year old male with history of gradual diminution of vision in both eyes since childhood. No known co-morbidities and no significant family history. On evaluation, his BCVA was 6/36-right eye and 6/60-left eye; near vision-N12 in both eyes. Colour vision-1/16 in BE. Anterior segments and IOP were normal in both eyes. On dilated fundus exam, both eyes- optic disc and vessels were normal. FR was dull- multiple confluent white curved and linear flecks were seen over macula in BE, suggestive of juvenile macular dystrophy possibly Stargardt disease. OCT revealed thinning of macula in BE. Visual fields showed extensive field defects. In Stargardt disease vision loss may precede appearance of flecks; hence regular followup with careful macular exam is required for the diagnosis.