Lueder G T, Steiner R D
Department of Ophthalmology, Washington University Medical Center, St. Louis, MO 63110, USA.
Am J Ophthalmol. 1995 Aug;120(2):256-8. doi: 10.1016/s0002-9394(14)72621-2.
PURPOSE/METHODS: Focal dermal hypoplasia is an inherited dermatologic disorder commonly associated with skeletal and dental abnormalities. Ocular abnormalities frequently found in patients with focal dermal hypoplasia include microphthalmos, anophthalmos, and colobomas. Corneal abnormalities rarely have been described in patients with focal dermal hypoplasia. We examined a mother and daughter with focal dermal hypoplasia with distinctive corneal lesions.
RESULTS/CONCLUSION: Several discrete vascularized peripheral subepithelial corneal opacifications were present bilaterally in both patients with focal dermal hypoplasia. No ocular abnormalities that would predispose to these abnormalities were found. These corneal lesions appear to represent an unusual manifestation of focal dermal hypoplasia.
目的/方法：局灶性真皮发育不全是一种遗传性皮肤病，常伴有骨骼和牙齿异常。局灶性真皮发育不全患者常见的眼部异常包括小眼畸形、无眼畸形和缺损。局灶性真皮发育不全患者中很少有角膜异常的描述。我们检查了一对患有局灶性真皮发育不全且有独特角膜病变的母女。
结果/结论：两名局灶性真皮发育不全患者双侧均出现了几个离散的血管化周边角膜上皮下混浊。未发现易导致这些异常的眼部异常。这些角膜病变似乎代表了局灶性真皮发育不全的一种不寻常表现。
