Retinal Findings in Bardet-Biedl Syndrome

Authors

  • Mukut Roy Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India
  • Pranab Kumar Sahana Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India
  • Chanchal Das Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India
  • Nilanjan Sengupta Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India
  • Soham Sarkar Vasan Eye Care Hospital, Howrah, Kolkata, West Bengal, India
  • Saikat Chakrabarti GD Hospital and Diabetes Institute, Kolkata, West Bengal, India

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.

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Author Biographies

Mukut Roy, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Research Academic, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Pranab Kumar Sahana, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Associate  Professor, Department  of  Endocrinology, Nilratan  Sircar    Medical  College, Kolkata,  West  Bengal,  India

Chanchal Das, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Research Academic, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Nilanjan Sengupta, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Professor  and  Head  of  the  Department, Department of Endocrinology, NilRatan Sircar Medical College, Kolkata,West Bengal, India

Soham Sarkar, Vasan Eye Care Hospital, Howrah, Kolkata, West Bengal, India

Consultant ophthalmologist, Vasan Eye Care Hospital, Howrah, Kolkata, West Bengal, India

Saikat Chakrabarti, GD Hospital and Diabetes Institute, Kolkata, West Bengal, India

Consultant ophthalmologist, GD Hospital and Diabetes Institute, Kolkata,  West  Bengal,  India

References

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Published

2014-11-29

How to Cite

Roy, M., Sahana, P. K., Das, C., Sengupta, N., Sarkar, S., & Chakrabarti, S. (2014). Retinal Findings in Bardet-Biedl Syndrome. Journal of the ASEAN Federation of Endocrine Societies, 29(2), 194. Retrieved from https://asean-endocrinejournal.org/index.php/JAFES/article/view/153

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Images in Endocrinology

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