Clinicopathological features of ocular cystinosis

Kocabora, Mehmet Selim; Özbilen, Kemal Turgay; Altunsoy, Muhsin; Ahıshalı, Bülent; Taşkapili, Mühittin

doi:10.1111/j.1442-9071.2008.01886.x

Cited by 10 publications

(14 citation statements)

References 8 publications

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“…In vivo confocal microscopy demonstrated irregularly oriented widely distributed ovoid, fusiform, and needle-shaped crystalline deposits with a length ranging between 10 between 140 mm in corneal stroma in nephropathic and ocular cystinosis. [17][18][19][20] In multiple myeloma, immunoglobulins were shown to deposit at every level of the cornea in histopathologic and electron microscopic studies. 21 Using in vivo confocal microscopy, the crystal deposits appeared as discrete hyperreflective globules distributed randomly within the corneal epithelium and anterior stroma.…”

Section: Discussionmentioning

confidence: 99%

In Vivo Confocal Microscopic Findings of 2 Patients With Bietti Crystalline Corneoretinal Dystrophy

Bozkurt

Öztürk

Kerimoğlu

et al. 2010

Cornea

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Section: Discussionmentioning

confidence: 99%

In Vivo Confocal Microscopic Findings of 2 Patients With Bietti Crystalline Corneoretinal Dystrophy

Bozkurt

Öztürk

Kerimoğlu

et al. 2010

Cornea

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“…In the literature there are contradictory data on the stromal pattern of corneal crystal deposition. Most of the studies describe that the majority of the crystals is located in the anterior or in the posterior stroma [9,10], while some case reports describe the main involvement of the middle layer [2,5]. Previous histopathological and clinical studies confirmed that crystal deposition begins at the anterior and peripheral part of the cornea and spreads posteriorly and centrally with aging [11,16,17].…”

Section: Discussionmentioning

confidence: 99%

“…Nephropathic or infantile cystinosis is the most frequent (95% of cases) and the most severe phenotype of the disease [5]. It is characterized by renal Fanconi syndrome, which begins in infancy, usually from 6 to 12 months of age [3].…”

Section: Introductionmentioning

confidence: 99%

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Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study

et al. 2020

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Background: Presence of corneal cystine crystals is the main ocular manifestation of cystinosis, although controversial findings concerning the corneal layer with the highest density have been reported. The aim of this study was the analysis of the characteristics of crystal arrangement in different corneal layers and the assessment of corneal morphological changes with age. Methods: A cross sectional study was carried out in three children and three adults who had nephropathic cystinosis and corneal cystine depositions. All patients underwent a comprehensive ophthalmological examination including best corrected distance visual acuity, slit-lamp examination, in vivo confocal microscopy and anterior segment optical coherence tomography. An evaluation of the depth of crystal deposits and crystal density in different corneal layers was also performed. Due to the low number of subjects no statistical comparison was performed. Results: Anterior segment optical coherence tomography images revealed deposition of hyperreflective crystals from limbus to limbus in each patient. Crystals appeared as randomly oriented hyperreflective, elongated structures on in vivo confocal microscopy images in all corneal layers except the endothelium. In children the deposits occurred predominantly in the anterior stroma, while in adults, the crystals were mostly localized in the posterior corneal stroma with the depth of crystal deposition showing an increasing tendency with age (mean depth of crystal density was 353.17 ± 49.23 μm in children and it was 555.75 ± 25.27 μm in adults). Mean crystal density of the epithelium was 1.47 ± 1.17 (median: 1.5; interquartile range: 0.3-2.4). Mean crystal density of the anterior and posterior stroma of children and adults was 3.37 ± 0.34 (median: 3.4; interquartile range: 3.25-3.55) vs. 1.23 ± 0.23 (median: 1.2; interquartile range: 1.05-1.35) and 0.76 ± 0.49 (median: 0.7; interquartile range: 0.4-1.15) vs. 3.63 ± 0.29 (median: 3.7; interquartile range: 3.45-3.8), respectively. Endothelium had intact structure in all cases. Some hexagonal crystals were observed in two subjects. Conclusions: In vivo confocal microscopy and anterior segment optical coherence tomography confirmed an agerelated pattern of crystal deposition. In children, crystals tend to locate anteriorly, while in adults, deposits are found posteriorly in corneal stroma.

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“…However, the patients in these studies had nephropathic cystinosis, not the milder ocular cystinosis presented in our case report. In a case report by Kocabora et al [6], these crystals were described as variable in size and shape, being square, oblong, or rhomboid at 0.5-2 μm in length. This is comparable to the pathology specimen from our case report, which showed oblong crystals of varying size on TEM.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2018

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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.

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Clinicopathological features of ocular cystinosis

Cited by 10 publications

References 8 publications

In Vivo Confocal Microscopic Findings of 2 Patients With Bietti Crystalline Corneoretinal Dystrophy

In Vivo Confocal Microscopic Findings of 2 Patients With Bietti Crystalline Corneoretinal Dystrophy

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study

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

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