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

Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up.

Molecular vision - 1 Jan 2019

Serra Rita, Floris Matteo, Pinna Antonio, Boscia Francesco, Cucca Francesco, Angius Andrea

Abstract excerpt

Purpose: Cone rod-dystrophies (CRDs) are pigmentary retinopathies mainly involving cones. CRDs typically present with decreased visual acuity and loss of sensitivity in the central visual field, reflecting the primary dysfunction of cones associated with night blindness and concentric visual field loss due to rod dysfunction. We describe the phenotype, natural history, and molecular analysis results of an early...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Fluorescein Angiography

Share to Fluorescence

Share to Follow-Up Studies

Share to Fundus Oculi

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 31819343
PMCID: PMC6887784

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

Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up.PMID 31819343Read ↗

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.Semantic proximity Read ↗

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

Cone rod dystrophies.Semantic proximity Read ↗

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Semantic proximity Read ↗

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.Semantic proximity Read ↗

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

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

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.Semantic proximity Read ↗

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.Semantic proximity Read ↗

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.Semantic proximity Read ↗

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.Semantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

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