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

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.

International journal of molecular sciences - 7 Feb 2021

Brunetti-Pierri Raffaella, Karali Marianthi, Melillo Paolo, Di Iorio Valentina, De Benedictis Antonella, Iaccarino Gennarfrancesco, Testa Francesco, Banfi Sandro, Simonelli Francesca

Abstract excerpt

Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization of an Italian cohort comprising 21 ACHM patients (17 unrelated families). Molecular genetic testing identified biallelic pathogenic mutations in known ACHM genes,...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Color Vision Defects

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cyclic Nucleotide-Gated Cation Channels

Share to Cyclic Nucleotide Phosphodiesterases, Type 6

Share to Eye Proteins

Share to Heterotrimeric GTP-Binding Proteins

Share to Longitudinal Studies

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 33562422
DOI: 10.3390/ijms22041681
PMCID: PMC7914547

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.PMID 33562422Read ↗

Phenotypic characteristics of Danish patients with achromatopsia.Semantic proximity Read ↗

Achromatopsia: on the doorstep of a possible therapy.Semantic proximity Read ↗

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.Semantic proximity Read ↗

Molecular genetic cause of achromatopsia in two patients of Czech origin.Semantic proximity Read ↗

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Semantic proximity Read ↗

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.Semantic proximity Read ↗

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

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.Semantic proximity Read ↗

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

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.Semantic proximity Read ↗

Photoreceptor Structure in GNAT2-Associated Achromatopsia.Semantic proximity Read ↗

Photoreceptor structure and function in patients with congenital achromatopsia.Semantic proximity Read ↗

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