Jacobson S G, Borruat F X, Apáthy P P
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida 33101.
Am J Ophthalmol. 1990 Jun 15;109(6):676-88. doi: 10.1016/s0002-9394(14)72436-5.
We studied visual function in 16 patients with the Bardet-Biedl syndrome. Visual acuity, kinetic perimetry, and electroretinography results indicated a severe loss of central and peripheral vision and rod and cone function by the second or third decade of life. Light- and dark-adapted static perimetry in patients 10 to 15 years of age with early involvement showed a parallel and marked loss of rod and cone sensitivity across the visual field. Patients with more advanced disease and no measurable peripheral visual field showed different patterns of central visual dysfunction: an island of only cone function centered in a bull's-eye lesion; patches of rod function surrounding geographic atrophy; or a central island of excellent rod sensitivity but severely impaired cones. In the two least-affected patients, a 13-year-old boy and the asymptomatic 45-year-old sibling of a patient, there were more rod than cone abnormalities as determined by electroretinography and static perimetry.
我们对16例巴德-比德尔综合征患者的视觉功能进行了研究。视力、动态视野检查和视网膜电图结果表明，到生命的第二个或第三个十年，患者的中心和周边视力以及视杆和视锥功能严重丧失。在10至15岁早期受累患者中进行的明适应和暗适应静态视野检查显示，整个视野中视杆和视锥敏感度平行且明显丧失。疾病进展更严重且周边视野无法测量的患者表现出不同的中心视觉功能障碍模式：以靶心病变为中心的仅视锥功能岛；地理性萎缩周围的视杆功能斑块；或视杆敏感度极佳但视锥严重受损的中心岛。在受影响最小的两名患者中，一名13岁男孩和一名患者无症状的45岁同胞，通过视网膜电图和静态视野检查确定，视杆异常比视锥异常更多。
