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Article

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

Ophthalmic genetics - 1 Jun 2022

AlMoallem Basamat, Alharthi Essam

Abstract excerpt

CASE DESCRIPTION: A 12-year-old boy with a history of decreased vision and photophobia since he was 1 year old. Comprehensive clinical and molecular approaches were applied to evaluate his condition by which a detailed ophthalmological examination revealed bilateral isolated foveal hypoplasia with the absence of the avascular zone. Novel homozygous aryl hydrocarbon receptor (AHR) splice site mutation NM_001621.4:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35188035
DOI: 10.1080/13816810.2022.2039718

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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