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

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2003

Nakamura Makoto, Ito Sei, Piao Chang-Hua, Terasaki Hiroko, Miyake Yozo

Abstract excerpt

OBJECTIVE: To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB). METHODS: We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicroscopy,...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Calcium Channels
Share to Calcium Channels, L-Type

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

Share to Eye Diseases, Hereditary

Share to Optic Atrophy

Share to Retinal Diseases

Share to Vision Disorders

Share to Visual Fields

Source

Identifiers

PMID: 12860808
DOI: 10.1001/archopht.121.7.1028

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.PMID 12860808Read ↗

Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.Semantic proximity Read ↗

Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.Semantic proximity Read ↗

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.Semantic proximity Read ↗

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.Semantic proximity Read ↗

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Semantic proximity Read ↗

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.Semantic proximity Read ↗

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.Semantic proximity Read ↗

Ȧland Island eye disease in two patients harboring novel CACNA1F variants.Semantic proximity Read ↗

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.Semantic proximity Read ↗

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Semantic proximity Read ↗

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Semantic proximity Read ↗

A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.Semantic proximity Read ↗

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