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Ocular Involvement in Infantile Cystinosis: A Case Report
Amine Razzak1,2, Hala Ait Ammar1,2, Mohamed Bouazza1,2
1Department of Ophthalmology, Cheikh Khalifa International University Hospital, Mohammed VI University of Sciences and Health, Casablanca, MAR.
Infantile cystinosis, a rare genetic disorder, causes cystine buildup, leading to vision loss. Early diagnosis and multidisciplinary management, including cysteamine treatment, are crucial for preserving sight in affected children.
Area of Science:
- Pediatric Nephrology
- Ophthalmology
- Medical Genetics
Background:
- Infantile cystinosis is a rare, inherited metabolic disorder.
- Characterized by lysosomal cystine accumulation, it affects multiple organs.
- Ophthalmological complications significantly impact visual prognosis.
Observation:
- A 5-year-old male presented with growth issues, rickets, metabolic acidosis, and photophobia.
- Ophthalmological exam revealed reduced visual acuity and birefringent corneal/conjunctival deposits.
- Diagnosis of infantile cystinosis confirmed by clinical presentation.
Findings:
- Cystinosis causes cystine keratopathy and retinopathy, threatening vision.
- The underlying cause is autosomal recessive inheritance and intralysosomal cystine buildup.
- Birefringent deposits are a key diagnostic sign in ocular tissues.
Implications:
- Early, multidisciplinary management is essential for preventing severe complications.
- Cysteamine is the specific treatment, but requires timely initiation.
- Prompt diagnosis and intervention can improve long-term visual outcomes.
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