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Article

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

Molecular vision - 1 Jan 2017

Dias Miguel de Sousa, Hamel Christian P, Meunier Isabelle, Varin Juliette, Blanchard Steven, Boyard Fiona, Sahel José-Alain, Zeitz Christina

Abstract excerpt

PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28356705
PMCID: PMC5360453

Genes

ERG
TTLL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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