Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Ophthalmic genetics - 1 Jan 2016

Katagiri Satoshi, Hayashi Takaaki, Yoshitake Kazutoshi, Akahori Masakazu, Ikeo Kazuho, Gekka Tamaki, Tsuneoka Hiroshi, Iwata Takeshi

Abstract excerpt

PURPOSE: More than 50 genes are reported as causative genes of autosomal recessive (ar) retinitis pigmentosa (RP) and cone-rod dystrophy (CRD). It is challenging to identify causative mutations for arRP and arCRD. The purpose of the present study was to investigate clinical and genetic features of two siblings with early-onset retinal dystrophy. METHODS: Whole-exome sequencing was conducted for the two affected...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Geographic Atrophy

Share to Myopia, Degenerative

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 25113443
DOI: 10.3109/13816810.2014.949380

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.PMID 25113443Read ↗

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.Semantic proximity Read ↗

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.Semantic proximity Read ↗

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.Semantic proximity Read ↗

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.Semantic proximity Read ↗

Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.Semantic proximity Read ↗

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.Semantic proximity Read ↗

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.Semantic proximity Read ↗

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.Semantic proximity Read ↗

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Semantic proximity Read ↗

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.Semantic proximity Read ↗

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Semantic proximity Read ↗

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.