DR. APARAJITA BANERJEE

DR. NIRANJAN PUTHAL, DR. SUMITA MOHAPATRA, DR. RAJESH PANDA, DR. APARAJITA BANERJEE

Abstract

Introduction-Stickler syndrome is a progressive autosomal dominant connective tissue disorder that includes ocular(myopia, cataract, and retinal detachment, glaucoma) & systemic manifestations(hearing loss, midfacial maldevelopment, precocious arthritis).Variable phenotypic expression occurs within families.

Methodology-A male patient aged 38 years reported to our department with progressive decreasing vision in right eye. Fundoscopy showed retinal tear with temporal RRD with peripheral lattice degeneration & myopic tilted disc in both eyes. A positive family history was noted.

Discussion-The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Affected patients are at increased risk for RD , early detection and diagnosis are critical .

Conclusion-The patient was diagnosed with Stickler Syndrome. Ophthalmologists play a vital role in limiting vision loss & improving the quality of life.