Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

ConclusionTo our knowledge, this is the first description of a Japanese patient with BBS caused byBBS10 mutations. The clinical characteristics of our patient were mild, as neither renal impairment nor legal blindness was observed. Early diagnosis would play a role in providing counseling, and in some cases, therapeutic interventions for BBS patients.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research