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

Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders

10 Jul 2025

Abstract excerpt

To compare the clinical characteristics of inherited retinal diseases (IRDs) caused by biallelic versus monoallelic variants in the RP1, BEST1, and PROM1 genes. A total of 52 patients (26 female) with genetically confirmed IRDs were retrospectively selected from the records of the Harkness Eye Institute Clinical Coordinating Center at Columbia University Irving Medical Center. In RP1, 3 individuals with biallelic...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40724865
DOI: 10.3390/ijms26146615

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal DisordersPMID 40724865Read ↗

Clinical and Molecular Characterization of PROM1 -Related Retinal DegenerationSemantic proximity Read ↗

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.Semantic proximity Read ↗

Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.Semantic proximity Read ↗

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in HumansSemantic proximity Read ↗

Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.Semantic proximity Read ↗

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.Semantic proximity Read ↗

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.Semantic proximity Read ↗

Review and Meta-Analysis of BEST1 Retinopathy: Global Prevalence and Mutational LandscapeSemantic proximity Read ↗

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.Semantic proximity Read ↗

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.Semantic proximity Read ↗

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.Semantic proximity Read ↗

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