Okami T, Nakajima M, Higashino H, Aoki T
Department of Opthalmology, Kansai Medical University, Moriguchi, Japan.
Nippon Ganka Gakkai Zasshi. 1992 Oct;96(10):1341-6.
A case of infantile cystinosis was reported. The diagnosis of cystinosis was made by the renal Fanconi syndrome and the ocular findings. The patient showed typical corneal and fundus changes associated with cystinosis. Corneal crystals and fundus pigmentary change were found early in life. The deposition of corneal crystals increased in the course of the disease, especially in the nasal and the temporal sides close to the limbus. By specular microscopy, the corneal crystals were needle-shaped and were larger and more numerous in the superficial layer of the stroma. The same shape of crystals ere found in the corneal endothelium, and the size of endothelial cells was markedly increased. There were also small crystals on the surface of the iris. The entire fundus showed a mottled appearance characterized by mixture of fine granular pigmentation and depigmentation associated with patchy depigmentation in the periphery. On the anterior surface of the retina, a glistening crystal appeared. As the crystal deposition in ocular tissues increases, even after successful peritoneal dialysis, eventual impairment of visual function may be expected.
报告了1例婴儿胱氨酸病。胱氨酸病的诊断依据是肾性范科尼综合征和眼部表现。该患者出现了与胱氨酸病相关的典型角膜和眼底改变。角膜晶体和眼底色素沉着改变在生命早期就已发现。在疾病过程中，角膜晶体的沉积增加，尤其是在靠近角膜缘的鼻侧和颞侧。通过镜面显微镜检查，角膜晶体呈针状，在基质表层更大且数量更多。在角膜内皮中发现了相同形状的晶体，内皮细胞大小明显增加。虹膜表面也有小晶体。整个眼底呈现斑驳外观，其特征是细颗粒状色素沉着和色素脱失混合，并伴有周边部的片状色素脱失。在视网膜前表面出现了一个闪亮的晶体。随着眼部组织中晶体沉积的增加，即使在成功进行腹膜透析后，最终也可能会出现视力功能损害。
