Dr.Anita Misra

DR. PRIYAMBADA SUBUDHI, Dr. SUMITA MOHAPATRA, Dr.Anita Misra, Dr. Lopamudra Bishi

Abstract

Gyrate atrophy (GA) of choroid and retina is a rare autosomal recessive metabolic disorder from deficiency of enzyme ornithine aminotransferase characterized by high myopia, typical chorioretinal lesions, early cataract formation and serum ornithine 10-20-fold above normal (48-195 µmol/L). A 13-year-old girl with bilateral myopia by school health screening 3 years ago, presented with rapidly deteriorating vision and night blindness for 1 year. BCVA in both eyes was 6/60 with -3.50D sphere. Dilated fundoscopy showed regions of confluent scalloped chorioretinal atrophy. FFA, perimetry, ERG, high plasma ornithine helped establish the diagnosis. No systemic or intellectual abnormality detected. Long term treatment with high dose vit B6 300mg/d started. Early diagnosis, oral vit B6, long term follow up of GA may reverse potentially blinding complications. Screening of siblings and genetic counselling of parents is mandatory.

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