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Ocular changes in some progressive hereditary nephropathies
J L Dufier1, D Orssaud, P Dhermy
1Hôpital Laennec, Paris, France.
Pediatric Nephrology (Berlin, Germany)
|July 1, 1987
Summary
Hereditary nephropathies like cystinosis, nephronophthisis, and Alport syndrome commonly affect the eyes. Retinal degeneration is a primary cause of vision loss in these conditions, necessitating further research into treatments.
Area of Science:
- Ophthalmology
- Nephrology
- Genetics
Background:
- Ocular manifestations are frequently observed in hereditary kidney diseases.
- Three specific hereditary nephropathies—cystinosis, nephronophthisis, and Alport syndrome—share common ocular pathologies.
Purpose of the Study:
- To review and summarize the ocular findings in patients with cystinosis, nephronophthisis, and Alport syndrome.
- To highlight the impact of these conditions on visual function and potential therapeutic avenues.
Main Methods:
- Retrospective analysis of ocular examinations in patients with diagnosed hereditary nephropathies.
- Review of clinical symptoms, histological findings, and electroretinogram (ERG) results.
Main Results:
- Infantile cystinosis affects corneal and retinal epithelium, with retinal involvement causing blindness.
- Nephronophthisis presents with varying degrees of chorioretinal degeneration and ERG alterations.
- Alport syndrome cases showed anterior lenticonus impacting visual acuity and retinopathy without vision loss.
Conclusions:
- Ocular complications, particularly retinal degeneration, are significant in these hereditary nephropathies.
- Topical cysteamine shows promise for cystinosis but requires further investigation.
- Early detection and understanding of ocular involvement are crucial for managing these genetic disorders.