A case of corneal cystinosis in a patient with rickets and chronic renal failure

被引：3

作者：

Won, Jae Yon ^{[1
]}

Hwang, Hyung Bin ^{[2
]}

Chung, Sung Kun ^{[3
]}

机构：

[1] Catholic Univ Korea, Coll Med, Seoul St Marys Hosp, Dept Ophthalmol & Visual Sci, Seoul 130709, South Korea

[2] Catholic Univ Korea, Coll Med, Incheon St Marys Hosp, Dept Ophthalmol & Visual Sci, Seoul 130709, South Korea

[3] Catholic Univ Korea, Coll Med, St Pauls Hosp, Dept Ophthalmol & Visual Sci, Seoul 130709, South Korea

来源：

INDIAN JOURNAL OF OPHTHALMOLOGY | 2015年 / 63卷 / 10期

关键词：

Optical coherence tomography; transmission electron microscopy; variants; NEPHROPATHIC CYSTINOSIS; CRYSTALS; KERATOPATHY; CYSTEAMINE; GENE;

D O I：

10.4103/0301-4738.171509

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal deposits in corneal stromal keratocytes. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.

引用

页码：785 / 787

页数：3

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