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Primary hereditary oxalosis retinopathy.

T A Zak, R Buncic

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |January 1, 1983
    PubMed
    Summary

    A rare genetic disorder, type 1 hereditary oxalosis, caused progressive vision loss in an infant. The infant developed a unique retinal pigmentary abnormality with crystalline deposits.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Pediatric Medicine

    Background:

    • Type 1 hereditary oxalosis is a rare metabolic disorder.
    • Oxalosis can lead to systemic complications, including kidney stones and organ damage.
    • Ocular manifestations of oxalosis are uncommon but can impact vision.

    Observation:

    • A female infant presented with progressive atypical pigmentary retinopathy.
    • Initial presentation at 3 months showed a flecked retina.
    • At 9 months, a unique parafoveal hyperpigmented ring was observed.

    Findings:

    • The retinopathy was characterized by a dense parafoveal ring, 5 disc diameters in size.
    • This ring comprised hyperpigmented retinal pigment epithelium.
    • The RPE changes surrounded whitish, highly refractile calcium oxalate crystalline deposits.

    Implications:

    • This case highlights a unique ocular presentation of type 1 hereditary oxalosis.
    • Early detection of retinal changes may be crucial for managing oxalosis.
    • Further research into the pathogenesis of oxalosis-related retinopathy is warranted.

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