FP508
3516
Dr.Avva Venkata Anusha
Membership No | Author Name | Mobile | |
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3516 | Dr.Avva Venkata Anusha | [email protected] | 9000477798 |
Diabetic Retinopathy & Medical retina
Bardet-Biedl syndrome with atypical retinitis pigmentosa.
AIM:To report a case of Bardet-Biedl syndrome with atypical RP. MATERIALS AND METHODS:A 13-year-old male patient patient presented to us with H/O of DOV both eyes since childhood, insidious in onset and gradually progressive in nature.no history of trauma/surgeries. O/E:He had truncal obesity, small hands and feet with polydactyly, RE strabismus.Vision in both eyes were PL positive, PR inaccurate. Dilated fundoscopy -pale waxy optic disc,attenuated vessels without any pigmentary changes suggestive of atypical retinitis pigmentosa, USG abdomen suggested hypogonadism. CONCLUSION:BBS is a rare clinical syndrome that may go unnoticed by many clinicians. Renal failure is the leading cause of morbidity and mortality in patients with BBS. early detection of BBS is vital to halt the progression of renal DISEASE. The combined presence of post-axial polydactyly, blindness, learning disabilities, renal malformations, and obesity in a patient should alert to the possibility of BBS.
Membership No | Author Name | Mobile | |
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2075 | Dr.Prashanth B | [email protected] | 8884183997 |