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Article

Analysis of PDE6G mutations in a patient with retinitis pigmentosa.

BMC ophthalmology - 19 Aug 2024

Liu Xiaona, Shi Peiyan, Ge Jinling

Abstract excerpt

BACKGROUND: Mutations in PDE6A and PDE6B are known to cause autosomal recessive RP in humans, On the other hand, mutations in PDE6G are rare but can lead to severe early-onset RP. CASE PRESENTATION: An 8-year-old Chinese boy was referred to our hospital for poor vision issues. Refraction with cycloplegia showed high hyperopia with astigmatism both eyes. Funduscopic examination revealed typical bone spicule-type...

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Share to Cyclic Nucleotide Phosphodiesterases, Type 6
Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39160471
DOI: 10.1186/s12886-024-03623-2
PMCID: PMC11334475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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