X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.

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Article

X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.

Investigative ophthalmology & visual science - 1 Dec 1992

Jacobson S G, Roman A J, Cideciyan A V, Robey M G, Iwata T, Inana G

Abstract excerpt

Rod- and cone-mediated function was studied with psychophysics and electroretinography in members of an X-linked retinitis pigmentosa pedigree with the RP2 genotype. An asymptomatic hemizygote with an early stage of the disease had cone dysfunction in the mid-periphery and an abnormal cone electr...

Topics

Adult
Child
Contrast Sensitivity
Dark Adaptation
Electroretinography
Female
Genetic Linkage
Genotype
Humans
Male
Middle Aged
Pedigree
Phenotype
Photoreceptor Cells
Psychophysics
Retinitis Pigmentosa
Visual Field Tests
Visual Fields

Source

Open in PubMed

Identifiers

PMID: 1464493

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1464493-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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