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Article

Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

Ophthalmic genetics - 1 Jun 2024

Petersen Sekita Dalsgård, Belmouhand Mohamed, Hertz Jens Michael, Fagerberg Christina, Brasch-Andersen Charlotte, Grauslund Jakob, Munier Francis L, Larsen Michael

Abstract excerpt

BACKGROUND: We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes. METHODS: Clinical examination includes ocular biomicroscopy, fundus photography, optical coherence tomography, dipstick urinalysis, serum creatinine assessment, and molecular genetic...

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Source

Identifiers

PMID: 38197426
DOI: 10.1080/13816810.2023.2294844

Genes

COL4A3
COL4A4
COL4A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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