Premium
Clinicopathological features of ocular cystinosis
Author(s) -
Kocabora Mehmet Selim,
Ozbilen Kemal Turgay,
Altunsoy Muhsin,
Ahishali Bulent,
Taskapili Muhittin
Publication year - 2008
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2008.01886.x
Subject(s) - cystinosis , medicine , pathognomonic , photophobia , conjunctiva , cornea , pathology , confocal microscopy , ophthalmology , stroma , lamella (surface anatomy) , cystine , anatomy , chemistry , biology , microbiology and biotechnology , biochemistry , immunohistochemistry , disease , cysteine , enzyme
A bstract A 31‐year‐old woman who presented with photophobia was found to have bilateral corneal and conjunctival crystal deposition. Ocular cystinosis was diagnosed upon observation of typical crystals and lack of systemic involvement. In vivo confocal microscopy confirmed crystal deposition of the corneas and conjunctivae bilaterally. Optical coherence tomography showed stromal hyper‐reflectivity due to crystals within the corneal stroma. Transmission electron microscopy of the conjunctiva demonstrated pathognomonic intralysosomal cystine crystals inside fibroblasts and macrophages. Clinicopathological characteristics of ocular cystinosis are well described by this exceptional case.