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Article

Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2026

Kong Maximilian D, O'Connell Mia, Exinor Abdhel, Soucy Megan, Brodie Scott E, Tsang Stephen H

Abstract excerpt

PURPOSE: To report the clinical phenotype, imaging characteristics, and electrophysiologic findings of a 62-year-old patient with retinitis pigmentosa (RP) harboring a likely pathogenic homozygous KIZ (NM_018474.6) start codon variant (c.3G > A, p.Met1?), only previously reported in the compound heterozygous state. METHODS: The patient underwent clinical evaluation including full medical history, best-corrected...

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Identifiers

PMID: 41557064
DOI: 10.1007/s10633-025-10066-7

Genes

KIZ
CTNNA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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