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Article

BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1.

Retinal cases & brief reports - 1 Jan 2000

Essilfie Juliet O, Sanfilippo Christian J, Sarraf David

Abstract excerpt

PURPOSE: To report a case of bull's eye maculopathy associated with mutations in RDS/PRPH2 and ROM-1 genes. METHODS: We present a case report of a patient with a characteristic maculopathy and describe the multimodal retinal imaging findings including spectral domain optical coherence tomography and fundus autofluorescence and full-field electrophysiology. The results of genetic testing are also reported....

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Source

Identifiers

PMID: 29155698
DOI: 10.1097/ICB.0000000000000669

Genes

PRPH2

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1.PMID 29155698Read ↗

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

PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.Semantic proximity Read ↗

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

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.Semantic proximity Read ↗

Clinical variations in assessment of bull's-eye maculopathy.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 ↗

Genotype-Phenotype of Patients with PRPH2-Associated Retinal Dystrophy: Novel Insights on Foveal Structure and Visual OutcomesSemantic proximity Read ↗

Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features.Semantic proximity Read ↗

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.Semantic proximity Read ↗

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophySemantic proximity Read ↗

Using Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration.Semantic proximity Read ↗

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

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