Dr.Nafees Fathima

Dr.Ashok Kanakamedala

Abstract

A 17 year old female patient who is a known case of Type 1 Gaucher’s disease, diagnosed via enzyme analysis and molecular genetic testing(L483P mutation) presented with defective vision in right eye (OD) for the past year. She has been on enzyme replacement therapy (ERT) since 3 years of age.She had history of vitreoretinal surgery in OD 1 year back for Epiretinal membrane (ERM). Visual acuity in OD was counting fingers at 2 meters and in Left eye (OS) was 6/9.
On examination, OD had mature cataract with attached retina on B scan.OS had clear lens with dense white vitreous and pre retinal opacities with ERM in macula. Post cataract extraction, OD fundus also revealed similar dense white vitreous and pre retinal opacities which were denser compared to OS.
Such vitreous opacities have been infrequently reported in Gaucher disease and are said to represent Gaucher cells which are pathognomic macrophages with accumulated glycosphingolipids.