Mullaney P B, Risco J M, Teichmann K, Millar L
King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Ophthalmology. 1995 Feb;102(2):186-92. doi: 10.1016/s0161-6420(95)31037-8.
Three children, ranging in age from 2 to 6 months, had diffuse and homogeneously opaque corneas, clinically consistent with congenital hereditary endothelial dystrophy. Bilateral elevated intraocular pressure (IOP) was a feature in all three children.
Initially, all patients underwent glaucoma surgery to reduce IOP. Subsequently, a penetrating keratoplasty was performed in one eye of each patient to clear the visual axis. The excised corneal button was examined by light microscopy and by transmission and scanning electron microscopy.
Postoperatively, all patients maintained clear corneal grafts. Results of histopathologic examination showed an absence of the endothelial cell layer in all patients. The presence of a variably thick collagenous layer posterior to the anterior banded zone of Descemet's membrane and the absence of endothelial cells were noted on transmission electron microscopy. Scanning electron microscopy confirmed absent, or scanty, and abnormal endothelial cells.
The authors describe three patients with a clear association between congenital glaucoma and congenital hereditary endothelial dystrophy. This combination should be suspected where persistent and total corneal opacification fails to resolve after normalization of IOP.
三名年龄在2至6个月的儿童患有弥漫性、均匀性混浊角膜，临床上与先天性遗传性内皮营养不良相符。双侧眼压升高是所有三名儿童的一个特征。
最初，所有患者均接受青光眼手术以降低眼压。随后，对每名患者的一只眼睛进行穿透性角膜移植术以清除视轴。对切除的角膜植片进行光学显微镜检查以及透射和扫描电子显微镜检查。
术后，所有患者的角膜植片均保持透明。组织病理学检查结果显示所有患者均无内皮细胞层。在透射电子显微镜下，观察到Descemet膜前带状区后方存在厚度不一的胶原层且无内皮细胞。扫描电子显微镜证实内皮细胞缺失、稀少或异常。
作者描述了三名先天性青光眼与先天性遗传性内皮营养不良明显相关的患者。在眼压恢复正常后持续性全角膜混浊仍未消退的情况下，应怀疑存在这种联合情况。
