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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.

Cureus
|November 7, 2024
PubMed

Insights

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.

Keywords:
conjunctival depositscorneal depositscysteaminecystinosisinfantile cystinosis

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