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Article

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

Ophthalmic genetics - 1 Oct 2018

Khan Arif O, Patel Nisha, Ghazi Nicola G, Alzahrani Shahad S, Arold Stefan T, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular...

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Source

Identifiers

PMID: 30067419
DOI: 10.1080/13816810.2018.1498528

Genes

CLDN19

Variants

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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