Dr. SHERINA THOMAS

Dr. POORNACHANDRA B., Dr.NARESH KUMAR YADAV, Dr.SANTOSH GOPI KRISHNA GADDE

Abstract

Enhanced S cone syndrome (ESCS) is a rare, autosomal recessive disorder associated with degeneration of rods, red and green cone receptors with hypersensitivity of s-cones and typically presents with nyctalopia. Supernormal short wavelength cone response on ERG is pathognomic of ESCS. Our study aimed to describe the varied clinical, imaging and electrophysiological profiles of ESCS in Indian Asian patients. We did a retrospective analysis of 12 eyes of 6 Indian Asian patients with confirmed diagnosis of ESCS. Mean age was 21.3 years, BCVA ranged from 20/25 -20/320. Clinical features varied from unremarkable fundus to mid peripheral pigment clumping and atrophic lesions. OCT showed cystoid maculopathy, schisis, foveal thinning and lamellar hole. ERG had typical features in all cases. ESCS is a rare disorder and can be confused with conditions such as RP, CSNB, and XLRS, but with a better prognosis, hence knowing the clinical spectrum and making the right diagnosis is important.

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