Cameron J D, Fine B S, Shapiro I
Ophthalmology. 1987 Feb;94(2):187-96. doi: 10.1016/s0161-6420(87)33479-7.
The patient presented is a member of a four-generation kindred that has exhibited progressive retinal degenerative changes of choroideremia in an X-linked pattern. The patient was seen initially at age 44 with clinical retinal findings consistent with choroidal sclerosis. Over a 20-year interval of observation, the findings evolved into a clinical picture consistent with choroideremia. The patient died at age 66. Both eyes were obtained at autopsy. The histologic findings included extensive chorioretinal atrophy and epiretinal membrane formation. Additionally, Bruch's membrane was calcified and disrupted. Retinal (glial) cells had migrated through the ruptures in Bruch's membrane. There was production of thin and thicker basement membranes by glial (Müller) cells on the choroidal (collagenous) side of Bruch's membrane. There was hypoproduction of basement membrane by vascular endothelial cells and their pericytes both in the posterior uveal tract associated with loss of retinal pigment epithelial (RPE) cells and overlying retina and in the anterior uveal tract associated with loss of dilator muscle and flattening of the iris pigment epithelium. The finding of vascular endothelial cell abnormalities throughout the uveal tract strongly supports the concept that the primary defect in choroideremia lies with the uveal vessels rather than the RPE.
所呈现的患者是一个四代家族的成员，该家族呈现出X连锁模式的进行性视网膜变性疾病——先天性脉络膜视网膜萎缩。患者最初在44岁时被诊断，临床视网膜检查结果与脉络膜硬化一致。在20年的观察期内，这些表现逐渐发展为与先天性脉络膜视网膜萎缩相符的临床症状。患者于66岁去世。尸检时获取了双眼。组织学检查结果包括广泛的脉络膜视网膜萎缩和视网膜前膜形成。此外，布鲁赫膜钙化且破裂。视网膜（神经胶质）细胞通过布鲁赫膜的破裂处迁移。在布鲁赫膜脉络膜（胶原）侧，神经胶质（米勒）细胞产生了薄的和厚的基底膜。在与视网膜色素上皮（RPE）细胞和上方视网膜缺失相关的后葡萄膜以及与瞳孔开大肌缺失和虹膜色素上皮扁平化相关的前葡萄膜中，血管内皮细胞及其周细胞的基底膜产生减少。整个葡萄膜中血管内皮细胞异常的发现有力地支持了先天性脉络膜视网膜萎缩的主要缺陷在于葡萄膜血管而非RPE这一观点。
