A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.

doi:10.1080/13816810.2026.2652568

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Article

A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.

Ophthalmic genetics - 1 Oct 2026

Ting Dominic S, Holder Graham E, Tien Melissa C, Chia Karen J, Lim Chia Wei, Ngo Wei Kiong

Abstract excerpt

INTRODUCTION: To report a case of two siblings with a novel CEP78 mutation, presenting with Rod-Cone Dystrophy (RCD). METHODS: This is an observational case report of two Chinese male siblings, born to non-consanguineous parents, presenting with severe rod-cone dystrophy seen on clinical examination, multimodal imaging, and electroretinogram. Both patients underwent targeted gene sequencing. The parents of both...

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Topics

Humans
Male
Cone-Rod Dystrophies
Child
Electroretinography
Cell Cycle Proteins
Siblings

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Mutation, Missense

Pedigree

DNA Mutational Analysis

Tomography, Optical Coherence

Mutation

Heterozygote

Source

Open in PubMed

Identifiers

PMID: 41991503
DOI: 10.1080/13816810.2026.2652568

Genes

CEP78

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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