ArticleCureus2024
Ocular Involvement in Infantile Cystinosis: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile cystinosis is a rare systemic hereditary disorder characterized by abnormal cystine accumulation in cells, leading to various complications. Ophthalmological involvement is one of the major complications of this condition and significantly impacts visual prognosis. We report the case of a five-year-old male patient who was followed up for growth retardation, rickets, and refractory metabolic acidosis and was referred to ophthalmology for severe photophobia. Ophthalmological examination revealed a corrected visual acuity of 4/10 in the right eye and 8/10 in the left eye. Biomicroscopic examination showed birefringent corneal and conjunctival deposits. The diagnosis of infantile cystinosis was confirmed. Cystinosis is a lysosomal, autosomal recessive disease caused by intralysosomal cystine accumulation, manifesting ophthalmologically as cystine keratopathy and, less commonly, cystine retinopathy, which can threaten visual prognosis. The specific treatment for this condition is cysteamine, but management is multidisciplinary and must be initiated early to prevent severe complications.
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