title: Ocular and systemic manifestations of the Bardet-Biedl syndrome.
abstract: Four women with the Bardet-Biedl syndrome had ophthalmoscopic findings compatible with a severe rod-cone degeneration. The patients were legally blind (visual acuity, 20/200 or worse) in one or both eyes before the age of 30 years. Two patients with early involvement had macular bull's-eye pigment epithelial changes. Two other patients had more advanced disease with geographic atrophy of the macular pigment epithelium and underlying choriocapillaris. Bone spicule formation was variable. Electrophysiologic findings were consistent with severe derangement of both the rod and cone systems. All four patients had intraretinal capillary leakage along the vascular arcades and from the optic nerve without cystoid macular edema. Extensive endocrinologic evaluation showed no objective evidence of hypogenitalism in the three patients tested. Three patients had renal disease, secondary to vesicoureteral reflux, or hypertension, or both.
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001766:Blindness / Q000150:complications*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D006973:Hypertension / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D009765:Obesity / Q000151:congenital*; D010786:Photoreceptor Cells; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012162:Retinal Degeneration / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000150:complications*; D013577:Syndrome; D014718:Vesico-Ureteral Reflux / Q000150:complications