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Article

Ocular features in Alport syndrome: pathogenesis and clinical significance.

Clinical journal of the American Society of Nephrology : CJASN - 7 Apr 2015

Savige Judy, Sheth Shivanand, Leys Anita, Nicholson Anjali, Mack Heather G, Colville Deb

Abstract excerpt

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25649157
DOI: 10.2215/CJN.10581014
PMCID: PMC4386265

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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