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

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.

Molecular vision - 1 Jan 2019

Ehrenberg Miriam, Weiss Shirel, Orenstein Naama, Goldenberg-Cohen Nitza, Ben-Yosef Tamar

Abstract excerpt

Purpose: To describe the coexistence of additional non-ocular genetic diseases in patients diagnosed with inherited retinal degenerations (IRDs). Methods: The study was based on a retrospective chart review of patients diagnosed with IRD and additional rare systemic diseases. The chart review included the ophthalmic and genetic aspects of each patient. The ophthalmic examination included best-corrected visual...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Pedigree

Share to Phenotype

Share to Retinal Degeneration

Source

Open in PubMed Open full text

Identifiers

PMID: 31814694
PMCID: PMC6857777

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.PMID 31814694Read ↗

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.Semantic proximity Read ↗

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.Semantic proximity Read ↗

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity Read ↗

Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutationsSemantic proximity Read ↗

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic AspectsSemantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity Read ↗

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.Semantic proximity Read ↗

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.Semantic proximity Read ↗

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.Semantic proximity Read ↗

Genetic testing and diagnosis of inherited retinal diseases.Semantic proximity Read ↗

Toward an elucidation of the molecular genetics of inherited retinal degenerations.Semantic proximity Read ↗

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