Spectral Domain OCT-Based Retinochoroidal Cystine Crystal Sc
Cystinosis is a lysosomal storage disease leading to an accumulation of cystine crystals in several organs. Researchers aim to comprehensively describe chorioretinal cystine crystals via spectral domain optical coherence tomography (SD-OCT) and elaborate a new biomarker for systemic disease control.

Cystinosis is a rare lysosomal storage disease leading to an accumulation of cystine crystals in several organs. A study was conducted 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. A total of 85 eyes of 43 patients with cystinosis were included.

Results:
--Cystine crystals were detectable in all neuroretinal layers and the choroid, most frequently in the choriocapillaris.

--The RCCCS was negatively correlated with cysteamine intake and positively with cystatin C, a stable parameter of renal function.

--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.

Conclusively, retinochoroidal crystal accumulation occurs in all stages of ocular cystinosis. Oral cysteamine treatment may have a significant impact on crystal deposition. As a result, the SD-OCT based grading system proposed here could be used as an objective indicator for systemic illness management.

Source: https://bjo.bmj.com/content/early/2021/09/15/bjophthalmol-2021-319612?rss=1
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