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

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2022

Mizobuchi Kei, Hayashi Takaaki, Matsuura Tomokazu, Nakano Tadashi

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. NRL-associated autosomal dominant (AD)-RP is a rare form of AD-RP in the Japanese population. This study aimed to report a clinical characterization of NRL-associated retinopathy in a three-generation Japanese family. CASE PRESENTATION: A total of 4 patients from a Japanese family were referred to The Jikei University...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

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

Share to Electroretinography

Share to Pedigree

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 35653045
DOI: 10.1007/s10633-022-09874-y

Genes

NRL

Variants

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

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.PMID 35653045Read ↗

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variantsSemantic proximity Read ↗

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.Semantic proximity Read ↗

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Semantic proximity Read ↗

NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.Semantic proximity Read ↗

Retinitis Pigmentosa: Progress and Perspective.Semantic proximity Read ↗

Hereditary and Clinical Features of Retinitis Pigmentosa in KoreansSemantic proximity Read ↗

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.Semantic proximity Read ↗

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.Semantic proximity Read ↗

Clinical Characteristics of<i>EYS</i>-Associated Retinal Dystrophy in 295 Japanese PatientsSemantic proximity Read ↗

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsinSemantic proximity Read ↗

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