Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age.
Bardet-Beidl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by dysmorphic distal extremities, obesity, renal abnormalities, hypogenitalism, and varying degrees of mental retardation. Other less common abnormalities are cardiac and hepatic diseases, anal atresia, cerebellar dysfunction, and, in rare cases, nystagmus. This is a report of a child with Bardet-Biedl syndrome who presented at 15 months of age with a horizontal and rotary nystagmus as the initial sign of this disorder.
Musarella
M A
MA
Department of Ophthalmology, Long Island College Hospital, Brooklyn, New York 11201, USA. mariaeyes2@aol.com
D000015:Abnormalities, Multiple / Q000175:diagnosis; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009759:Nystagmus, Pathologic / Q000175:diagnosis*; D009765:Obesity / Q000175:diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D013576:Syndactyly / Q000175:diagnosis