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

Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.

Current eye research - 1 Nov 2008

Tsui Irena, Chou Chai Lin, Palmer Neeco, Lin Chyuan-Sheng, Tsang Stephen H

Abstract excerpt

PURPOSE: To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families. METHODS: Four patients from a family with a history of autosomal dominant RP had complete clinical examinations and underwent full-field electroretinography (ERG), fundus autofluorescence (AF) imaging, and genetic testing. One patient had...

Read the complete abstract on PubMed

Topics

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

Share to Asparagine
Share to Electroretinography
Share to Fluorescence

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

Share to Fundus Oculi

Share to Retinal Pigment Epithelium

Share to Rhodopsin

Share to Visual Acuity

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 19085385
DOI: 10.1080/02713680802484645
PMCID: PMC2749948

Genes

ERG
RHO

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

Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.PMID 19085385Read ↗

An unusual retinal phenotype associated with a novel mutation in RHO.Semantic proximity Read ↗

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.Semantic proximity Read ↗

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.Semantic proximity Read ↗

Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa.Semantic proximity Read ↗

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.Semantic proximity Read ↗

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A.Semantic proximity Read ↗

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.Semantic proximity Read ↗

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.Semantic proximity Read ↗

Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.Semantic proximity Read ↗

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.Semantic proximity Read ↗

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