Dr.PRERNA MESHRAM

Dr.Neetu Kori, Dr.MADHVI TIWARI, DR. OZAIR MOHAMMAD

Abstract

Stargardt disease is a genetic disorder caused by mutations in ABCA4gene. Progressive Vision loss due to abnormal accumulation of a fatty yellow pigment (lipofuscin)in cells of macula,difficulty in night & color vision.

Case-24yr female came with c/o diminution of vision in BE since 14 yrs.

FUNDUS EXAMINATION:Black Pigments in macular area surrounded by hypo pigmented patches,Few black pigments in periphery.

OCT:Reduced central macular thickeness & perifoveal RNFL thickness.

Purpose:The diagnosis is essential as stargardts disease is having tremendous variability in course & outcome even within same family,visual prognosis is uncertain & has to be made with caution.

Conclusion:Adult onset stargart disease is rarely autosomal recessive macular dystrophy.The management till now,palliative(wearing tinched glasses,restriction of vitamin A,genetic counselling).