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Article

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

Acta ophthalmologica - 1 Feb 2016

Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johanna

Abstract excerpt

PURPOSE: To investigate the association of mutations in the mitochondrial DNA (mtDNA) or nuclear candidate genes with mitochondrial disease-related ophthalmic manifestations (nystagmus, ptosis, ophthalmoplegia, optic neuropathy and retinopathy) in children. METHODS: A retrospective cohort of children (n = 98) was identified from the medical record files of a tertiary care hospital. The entire mtDNA and nuclear...

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Source

Identifiers

PMID: 26448634
DOI: 10.1111/aos.12897

Genes

OPA1
TULP1

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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