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Article

PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

European journal of ophthalmology - 1 Jan 2000

Coco Rosa M, Tellería Juan J, Sanabria M Rosa, Rodríguez-Rúa Enrique, García M Teresa

Abstract excerpt

PURPOSE: To assess the occurrence of PRPH2 mutations in patients presenting macular dystrophies and to describe their phenotype-genotype correlation. METHODS: A total of 32 sporadic cases and 13 individuals from 5 families were studied. The patients presented early onset drusen, suspected pattern...

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Source

Identifiers

PMID: 20213611
DOI: 10.1177/112067211002000413

Genes

PRPH2
DMD
EFEMP1
TIMP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20213611-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.PMID 20213611Read ↗

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.Semantic proximity Read ↗

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.Semantic proximity Read ↗

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Semantic proximity Read ↗

[Genotype-phenotype correlation in patients with PRPH2-mutations].Semantic proximity Read ↗

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.Semantic proximity Read ↗

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.Semantic proximity Read ↗

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.Semantic proximity Read ↗

PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.Semantic proximity Read ↗

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.Semantic proximity Read ↗

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.Semantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseSemantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Semantic proximity Read ↗

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