Bardet-Biedl Syndrome

A young adult presented with progressive decrease in the visual acuity of both eyes. Past medical history included idiopathic intracranial hypertension suspect, obesity, learning disabilities, anxiety, polydactyly (status post excision of an extra toe). Family history includes a paternal aunt with polydactyly and early ovarian cancer, a twin brother and a younger brother with polydactyly, obesity, and learning disabilities. Slit lamp examination was normal. Fundus exam revealed bilateral macular pigment changes and mottling as well as peripheral pigment changes. Given the systemic features and the presence of pigmentary retinopathy, genetic testing was performed on peripheral blood sample. Results came back positive for homozygote BBS1 variant c.1169T>G(p.Met390AArg) - Bardet-Biedl Syndrome. The patient has two brothers with the same mutation. Patient was referred for systemic evaluation in search for renal and reproductive system abnormalities as well as diabetes mellitus. The objective of this case is to be aware of the differential diagnosis of pigmentary retinopathy and inherited retinal diseases (IRD). This case also highlights the importance of a systemic review and genetic testing in the diagnosis of IRD such as Bardet-Biedl Syndrome.

Presentation Date: 03/02/2023

Issue Date: 03/17/2023