Literature DB >> 30976588

Anterior Segment Optical Coherence Tomography of Ocular Cystinosis Confirmed by Electron Microscopy.

Abhinav Golla1, Mitchell P Weikert1, Patricia Chevez-Barrios1, Zaina Al-Mohtaseb1.   

Abstract

PURPOSE: To report a case of ocular cystinosis diagnosed by anterior segment optical coherence tomography (AS-OCT) and histopathology.
METHODS: A 67-year-old man who presented with eye pain was found to have unilateral corneal crystal deposition. Ocular cystinosis was diagnosed by histopathology, AS-OCT, and lack of renal involvement of the disease.
RESULTS: AS-OCT showed hyperreflective densities in the corneal epithelium. The patient underwent superficial keratectomy given irregular astigmatism prior to cataract surgery. Electron microscopy of the corneal scrapings revealed epithelial cells with intracystoplasmic membrane-bound crystals confirming the diagnosis of cystinosis.
CONCLUSION: To our knowledge, this is the first reported case of ocular cystinosis involving strictly the epithelial layer of the cornea that has been imaged by AS-OCT.

Entities:  

Keywords:  Anterior segment optical coherence tomography; Electron microscopy; Ocular cystinosis

Year:  2018        PMID: 30976588      PMCID: PMC6422133          DOI: 10.1159/000490389

Source DB:  PubMed          Journal:  Ocul Oncol Pathol        ISSN: 2296-4657


  8 in total

1.  Intralysosomal cystine crystals in cystinosis.

Authors:  V G Wong; T Kuwabara; R Brubaker; W Olson; J Schulman; J E Seegmiller
Journal:  Invest Ophthalmol       Date:  1970-01

Review 2.  Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

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Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

Review 3.  Differential diagnosis of Schnyder corneal dystrophy.

Authors:  Jayne S Weiss; Arbi J Khemichian
Journal:  Dev Ophthalmol       Date:  2011-04-26

4.  Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.

Authors:  Robert Kleta; Scott C Blair; Isa Bernardini; Muriel I Kaiser-Kupfer; William A Gahl
Journal:  Mayo Clin Proc       Date:  2004-03       Impact factor: 7.616

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Authors:  F H Stefani; S Vogel
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

6.  Clinicopathological features of ocular cystinosis.

Authors:  Mehmet Selim Kocabora; Kemal Turgay Ozbilen; Muhsin Altunsoy; Bulent Ahishali; Muhittin Taskapili
Journal:  Clin Exp Ophthalmol       Date:  2008-11       Impact factor: 4.207

7.  Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Authors:  Vasiliki Kalatzis; Nathalie Nevo; Stéphanie Cherqui; Bruno Gasnier; Corinne Antignac
Journal:  Hum Mol Genet       Date:  2004-05-05       Impact factor: 6.150

8.  In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.

Authors:  Antoine Labbé; Patrick Niaudet; Chantal Loirat; Marina Charbit; Geneviève Guest; Christophe Baudouin
Journal:  Ophthalmology       Date:  2009-05       Impact factor: 12.079

  8 in total

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