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Article

A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

Ophthalmic genetics - 1 Oct 2023

Gooley Kieran, Williams Peter, Mack Heather, Zhu Victor, Langsford David, Pianta Tim, Barit David, Mahmood Khalid, Savige Judy

Abstract excerpt

BACKGROUND: Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous LAMB2 pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome. METHODS: A 28-year-old man who...

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Identifiers

PMID: 37537573
DOI: 10.1080/13816810.2023.2240881

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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