[Ocular signs of primary hyperoxaluria type I]

Area of Science:

• Ophthalmology
• Nephrology
• Genetics

Background:

• Primary oxalosis type I is a rare genetic metabolic disorder.
• Oxalate crystal deposition in organs, including the eyes, leads to systemic complications.
• Renal failure is a common manifestation, often requiring dialysis.

Observation:

• Ophthalmological examinations were conducted on 14 patients with primary oxalosis type I.
• Patients' ages ranged from 3 months to 15 years, with 10 experiencing renal failure.
• Visual acuity was generally preserved, but ocular fundus findings varied.

Findings:

• Flecked retinopathy, characterized by white round flecks, was observed in 5 patients, likely due to calcium oxalate crystal deposition.
• Other observed retinal changes included diffuse retinal pigment atrophy and sectorial papillar atrophy.
• Ocular findings were present both before and after dialysis, with no correlation to dialysis duration.

Implications:

• Flecked retinopathy serves as a potential diagnostic sign for primary oxalosis type I.
• Ocular manifestations can occur independently of dialysis status or duration.
• Early detection of ocular signs may aid in the management of primary oxalosis.