Campo R V, Aaberg T M
Am J Ophthalmol. 1982 Dec;94(6):750-6. doi: 10.1016/0002-9394(82)90299-9.
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.
四名患有巴德-比德尔综合征的女性眼底镜检查结果符合严重的视杆-视锥细胞变性。这些患者在30岁之前一只或两只眼睛法定失明（视力为20/200或更差）。两名早期受累患者有黄斑靶心色素上皮改变。另外两名患者病情更严重，出现黄斑色素上皮和下方脉络膜毛细血管的地图状萎缩。骨针形成情况不一。电生理检查结果与视杆和视锥系统的严重紊乱一致。所有四名患者视网膜内沿血管弓和视神经均有毛细血管渗漏，但无黄斑囊样水肿。广泛的内分泌评估显示，接受检测的三名患者没有性腺功能减退的客观证据。三名患者患有肾脏疾病，继发于膀胱输尿管反流或高血压，或两者皆有。
