Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome

Kozák, Igor; Arévalo, J. Fernando; Shoughy, Samir S.

doi:10.1001/jamaophthalmol.2016.5169

Cited by 5 publications

(5 citation statements)

References 2 publications

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“…As previously described, 16 retinal crystals appear as distinct hyperreflective foci on SD-OCT B-scan images. For the purpose of this study, hyperreflective foci representing cystine crystals were graded by two independent expert SD-OCT readers (LK, CP), who did not know the patients’ identities or details about their ocular or systemic health.…”

Section: Methodssupporting

confidence: 70%

“…Therefore, SD-OCT is a particularly good diagnostic tool for cystinosis individuals because it uses light in the near-infrared spectral range, which is invisible for the human eye and therefore cannot cause photophobia. 16 This study aims to comprehensively describe and characterise the deposition of retinochoroidal crystals through SD-OCT in a large cohort of patients with cystinosis. Another goal was to gauge their potential value as an objective biomarker for systemic disease control.…”

Section: Clinical Sciencementioning

confidence: 99%

“… 15 Therefore, SD-OCT is a particularly good diagnostic tool for cystinosis individuals because it uses light in the near-infrared spectral range, which is invisible for the human eye and therefore cannot cause photophobia. 16 …”

Section: Introductionmentioning

confidence: 99%

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Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

Keidel¹,

Hohenfellner

Schworm³

et al. 2021

Br J Ophthalmol

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PrécisCystinosis is a lysosomal storage disease leading to an accumulation of cystine crystals in several organs. We aim to comprehensively describe chorioretinal cystine crystals via spectral domain optical coherence tomography (SD-OCT) and elaborate a new biomarker for systemic disease control.Background/aimsCystinosis is a rare lysosomal storage disease leading to an accumulation of cystine crystals in several organs. This study aims to describe the deposition of retinochoroidal crystals in infantile nephropathic cystinosis and to elucidate their potential value as an objective biomarker for systemic disease control.MethodsThis cross-sectional study was carried out by the University Eye Hospital of the Ludwig-Maximilian University (Munich, Germany) in collaboration with the German Cystinosis Study Group. A complete ophthalmologic examination was performed, along with posterior segment SD-OCT (Spectralis; Heidelberg Engineering GmbH, Heidelberg, Germany). Retinochoroidal crystals were graded by employing a novel semiquantitative grading system—the retinochoroidal cystine crystal score (RCCCS). To quantify quality of vision, patients completed a specific questionnaire. A total of 85 eyes of 43 patients with cystinosis were included (mean age 22.3±8.8 years, range 6–39; male:female ratio=23:20).ResultsCystine crystals were detectable in all neuroretinal layers and the choroid, most frequently in the choriocapillaris. The RCCCS was negatively correlated with cysteamine intake (r=0.533, p=0.001) and positively with cystatin C, a stable parameter of renal function (r=0.496, p=0.016). Moreover, the value of the RCCCS affected subjective quality of vision. Genetic analysis indicated pronounced crystal deposition in patients with heterozygous mutations containing the 57-kb-deletion allele of the CTNS gene.ConclusionOcular cystinosis leads to retinochoroidal crystal accumulation in every stage of the disease. Crystal deposition may be markedly influenced by oral cysteamine therapy. Therefore, the presented SD-OCT based grading system might serve as an objective biomarker for systemic disease control.

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Section: Methodssupporting

confidence: 70%

Section: Clinical Sciencementioning

confidence: 99%

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Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

Keidel¹,

Hohenfellner

Schworm³

et al. 2021

Br J Ophthalmol

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“…Spectral-domain or swept-source OCT scans (10,000 images/s) enable highly detailed anatomical analysis of the retinal layers; however, OCT is unable to accurately quantify the amount of deposits within the retina [ 34 , 36 ] (Table 3 ).…”

Section: Early Detection Strategies For Ophthalmic Complications Of Cmentioning

confidence: 99%

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

et al. 2018

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Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with corneal crystal deposition and no systemic involvement. Due to the rarity of the condition, diagnosis is often delayed and can have a significant impact on the overall prognosis of the disease. Early diagnosis is therefore imperative to ensure successful treatment and improve quality of life, as most of its clinical manifestations can be prevented or delayed. Early detection strategies and practical approaches for the ocular management of cystinosis were discussed during the Ophthalmology Cystinosis Forum, a 1-day meeting held in Berlin, Germany during June 2017. Recommendations for early detection comprise ophthalmic assessment, including self- and clinician-assessed recording of photophobia, and visual acuity, slit-lamp examination and tonometry ophthalmic examinations. In vivo confocal microscopy and anterior segment optical coherence tomography were highlighted as valuable techniques in evaluating cystine crystals in the cornea, in vivo and non-invasively. The mainstay of ocular cystinosis treatment is the cystine-depleting aminothiol cysteamine. Indeed, early treatment with and strict adherence to cysteamine therapy has a considerable impact on the long-term prognosis of ocular cystinosis. In rare diseases such as ocular cystinosis, standardised guidelines and recommendations for detection, patient care and follow-up assessments are essential. Such guidelines provide a support tool for healthcare professionals caring for ocular cystinosis patients. Multidisciplinary teams (MDTs) are essential for delivering gold standard care and improving quality of life for patients and their families. This review paper highlights current early detection policies, clinical treatment strategies and practical approaches for the ocular management of cystinosis, including implementing a cystinosis MDT. Additionally, discussions of the Ophthalmology Cystinosis Forum held in 2017 are summarised.FundingOrphan Europe.Plain Language SummaryPlain language summary available for this article.

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“…In SD-OCT, cystine crystals are visible as hyperreflective foci, which can be identified panretinally in all layers of the retina and choroid [14,30] (▶ Fig. 1 a, arrows and arrowheads).…”

Section: Sd-oct Findings In Infantile Nephropathic Cystinosismentioning

confidence: 99%

Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review

Keidel

Schworm

Hohenfellner

et al. 2023

Klin Monbl Augenheilkd

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Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 – 1 : 200 000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin, that transport cystine out of the lysosomes. Due to its dysfunction, cystine crystals accumulate in the lysosomes and ultimately cause apoptosis of the cell. Since cystinosin is ubiquitously present in the body, cystine crystals are deposited in every body structure and lead to the dysfunction of various organ systems in the course of time. Cystine crystals deposited in the cornea are a clinical hallmark of the disease, while there is less awareness of concomitant posterior segment alterations. Symmetrical pigment epithelial mottling and patches of depigmentation frequently start in the periphery and progress towards the posterior pole and can be encountered upon fundus biomicroscopy. Spectral-domain optical coherence tomography (SD-OCT) is an elegant tool for visualizing chorioretinal cystine crystals at the posterior pole. An SD-OCT-based clinical grading of the severity of the chorioretinal manifestation can potentially be applied as a biomarker for systemic disease status and for monitoring oral therapy adherence in the future. Along with previous histological examinations, it may also give information about the location of cystine crystals in the choroid and retina. This review aims to increase the awareness of vision-threatening retinal and choroidal changes in cystinosis and the concomitant findings in SD-OCT.

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Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome

Cited by 5 publications

References 2 publications

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review

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