Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Investigative ophthalmology & visual science - 1 Oct 2020

Daich Varela Malena, Ullah Ehsan, Yousaf Sairah, Brooks Brian P, Hufnagel Robert B, Huryn Laryssa A

Abstract excerpt

Purpose: Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone-rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone-rod dystrophy and the first longitudinal data of a pediatric patient with PDE6C-related cone dystrophy. Methods: This cohort of four patients underwent comprehensive ophthalmologic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Color Vision Defects
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide Phosphodiesterases, Type 6

Share to Retinal Cone Photoreceptor Cells

Share to Vision Disorders

Share to Visual Acuity

Share to Visual Field Tests

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 33001157
DOI: 10.1167/iovs.61.12.1
PMCID: PMC7545085

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.PMID 33001157Read ↗

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.Semantic proximity Read ↗

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Semantic proximity Read ↗

Deep Phenotyping of PDE6C-Associated Achromatopsia.Semantic proximity Read ↗

A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Semantic proximity Read ↗

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.Semantic proximity Read ↗

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.Semantic proximity Read ↗

A nonhuman primate model of inherited retinal diseaseSemantic proximity Read ↗

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapySemantic proximity Read ↗

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.Semantic proximity Read ↗

Two novel PDE6C gene mutations in Chinese family with achromatopsia.Semantic proximity Read ↗

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Semantic proximity Read ↗

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.