Chief & Presenting Author: Dr.Ragam Chaitanya Lahari

Co Author(s): Dr.Superna Mahendra

Abstract

STUDY DESIGN:A case report. PURPOSE:To enhance the knowledge of ophthalmology in association with other systemic conditions. METHODS:A 55 year old lady came to SDEH for visually handicapped certificate.She had short stature, brachydactyly,alopecia.On ocular examination BCVA RE-CF 1mt and LE-6/24. Ectropion,small eyes,severe dry eyes S/P PRK in RE&PI done in BE.RE-Aphakia LE-Pseudophakia(ACIOL). IOP:RE-12,LE-18mmHg,Gonioscopy showing open angles in BE.Dilated Fundus examination shows glaucomatous disc changes in BE. RESULT:Based on above finding and whole exome sequencing, diagnosis of Weill-marchesani syndrome with ADAMTS17 gene defect and also CERS3 gene defect suggestive of Ichthyosis with Autosomal recessive inheritance of both the genes noted. CONCLUSION:Each patient presenting to OPD should be considered as an individual entity and should undergo comprehensive eye and systemic examination keeping in mind a high suspicion of associated syndromes in the scenario of above given case.