Bardet-Biedl syndrome.
A young boy of 9 years hailing from Fulpur, Mymensingh was admitted in the department of Ophthalmology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh on the 26th November, 2007 with the complaints of dimness of vision of both the eyes and night blindness since birth. The boy suffered poor mental performances with delayed mild stone development. He was apathetic looking and below average IQ with short stature. Visual acuity of this patient recorded 6/60 both the eyes with nystagmus. Fundus examination revealed waxy disc atrophy, arteriolar attenuation and retinal degeneration both the eyes. He had polydactilism, trunkal obesity, hypogenitalism. On the basis of history, clinical examination and relevant investigations the patient was diagnosed as Bardet-Biedl Syndrome.
Habibullah
M
M
Department of Ophthalmology, Mymensingh Medical College and Hospital, Mymensingh, Bangladesh.
Mohiuddin
A A
AA
D020788:Bardet-Biedl Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D005654:Fundus Oculi; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009765:Obesity / Q000175:diagnosis; D017689:Polydactyly / Q000175:diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis