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 and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Ophthalmology. Retina - 1 Feb 2024

Daich Varela Malena, Moya Rene, Azevedo Souza Amaral Rebeca, Schlottmann Patricio G, Álvarez Mendiara Alejandro, Francone Aníbal, Guazi Resende Rosane, Capalbo Luciana, Gelvez Nancy, López Greizy, Morales-Acevedo Ana M, Ossa Rafael H, Arno Gavin, Michaelides Michel, Tamayo Martha L, Ferraz Sallum Juliana Maria

Abstract excerpt

PURPOSE: To characterize the largest cohort of individuals with retinol dehydrogenase 12 (RDH12)-retinal dystrophy to date, and the first one from South America. DESIGN: Retrospective multicenter international study. SUBJECTS: Seventy-eight patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12. METHODS: Review of clinical notes, ophthalmic images, and molecular diagnosis. MAIN...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Oxidoreductases
Share to Blindness

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

Share to Child, Preschool

Share to Eye Diseases, Hereditary

Share to Leber Congenital Amaurosis

Share to Retina

Share to Retinal Dystrophies

Source

Identifiers

PMID: 37714431
DOI: 10.1016/j.oret.2023.09.007

Genes

RDH12

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 and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.PMID 37714431Read ↗

RDH12 retinopathy: clinical features, biology, genetics and future directionsSemantic proximity Read ↗

Expanding the phenotypic spectrum in RDH12-associated retinal disease.Semantic proximity Read ↗

Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.Semantic proximity Read ↗

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.Semantic proximity Read ↗

RDH12 retinopathy: novel mutations and phenotypic description.Semantic proximity Read ↗

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.Semantic proximity Read ↗

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.Semantic proximity Read ↗

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Semantic proximity Read ↗

Macula-predominant retinopathy associated with biallelic variants in RDH12.Semantic proximity Read ↗

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.Semantic proximity Read ↗

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature ReviewSemantic proximity Read ↗

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