Retinal findings in Bardet-Biedl Syndrome

Author: Mukut Roy ¹ ; Pranab Kumar Sahana ¹ ; Chanchal Das ¹ ; Nilanjan Sengupta ¹ ; Soham Sarkar ² ; Saikat Chakrabarti ³
Author Information

1. Department of Endocrinology, Nilratan Sircar Medical College, Kolkata, West Bengal, India
2. Vasan Eye Care Hospital, Howrah, Kolkata, West Bengal, India
3. GD Hospital and Diabetes Institute, Kolkata, West Bengal, India
Publication Type:Journal Article
MeSH: Polydactyly; Obesity; Macular Degeneration; Bardet-Biedl Syndrome
From: Journal of the ASEAN Federation of Endocrine Societies 2014;29(2):194-196
CountryPhilippines
Language:English
Abstract: We report three cases of Bardet-Biedl syndrome (BBS) among which a young female and two siblings from a separate family, presented with common features of obesity, postaxial (ulnar) polydactyly, speech delay, developmental delay with learning difficulties and progressive deterioration of vision. Fundus examination revealed maculopathy and other remarkable findings in these patients. In this image of endocrinology, we describe the BBS phenotypes of these cases highlighting the fundus photography features with a plan for close follow up on obesity and endocrine complications.
Full text:153-Article Text-1687-1-10-20141129.pdf