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Article

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.

Investigative ophthalmology & visual science - 1 Nov 2016

Kjellström Ulrika, Veiga-Crespo Patricia, Andréasson Sten, Ekström Per

Abstract excerpt

PURPOSE: To describe genotype and phenotype in a family with autosomal recessive retinitis pigmentosa (arRP) carrying homozygous mutations in the gene for the α-subunit of cyclic guanosine monophosphate (cGMP)-hydrolyzing phosphodiesterase 6 (PDE6A). Moreover, to compare their plasma cGMP levels to controls, exploring the possible role for cGMP in RP diagnostics. METHODS: Seven siblings and their parents were...

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Share to Cyclic GMP
Share to Cyclic Nucleotide Phosphodiesterases, Type 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27820873
DOI: 10.1167/iovs.16-19861

Genes

ABCA4
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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