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Article

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

Investigative ophthalmology & visual science - 1 Jun 2018

Choi Jae-Hwan, Jung Jae-Ho, Oh Eun Hye, Shin Jin-Hong, Kim Hyang-Sook, Seo Je Hyun, Choi Seo Young, Kim Min-Ji, Choi Hee Young, Lee Changwook, Choi Kwang-Dong

Abstract excerpt

Purpose: We investigate the genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome in Korean probands. Methods: A total of 37 patients with infantile nystagmus syndrome were recruited prospectively for genetic analysis. We performed polymerase chain reaction (PCR)-based direct sequencing and haplotype analysis for FRMD7. Detailed ophthalmic examinations and eye movement recordings were...

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Source

Identifiers

PMID: 30025138
DOI: 10.1167/iovs.18-24207

Genes

FRMD7

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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