Dr. Sumitha Muthu

DR. JYOTI MATALIA, DR. SUMITHA MUTHU, DR. POOJA GHALLA, DR.PRATIBHA PANMAND

Abstract

The eyes are a window to brain & it is 2nd most common organ affected in a genetic disorder/ syndromes (syn) after brain. Here we present a series of such cases under 3 categories

Category 1 (C1): Syns with typical ophthalmic features that aid in diagnosis: 9 syns

A typical eye finding helps in clinching the diagnosis in syns with overlapping features eg Cherry red spot in Sphingolipidosis

C2: Syns with sight- threatening ophthalmic features: 15 syns

Timely referral to ophthalmologist is imperative in preventing vision loss (Ectopia lentis in Marfans or compressive optic neuropathy in Osteopetrosis) or in initiating visual rehab (RP in Bardet-Biedel syn)

C3: Syns with ophthalmic manifestations preceding systemic disease: 6 syns

Eg, Oculomotor apraxia can be 1st sign of Gauchers disease warranting a quick referral.

This presentation would serve as an insight for an ophthalmologist for early diagnosis, referral & treatment of syndromes, genetic diseases & inborn errors of metabolism