Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.

doi:10.1080/13816810.2026.2717331

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

Community

Back to search

Article

Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.

Ophthalmic genetics - 1 Oct 2026

Sherman Caroline L, Sumaroka Alexander, Roman Alejandro J, Hüther Alexander, Weber Mariejel L, Kim Rebecca, Brucker Alexander J, Cideciyan Artur V, Aleman Tomas S

Abstract excerpt

PURPOSE: To describe a peculiar retinal phenotype associated with a novel variant in FSCN2. METHODS: The patient underwent a comprehensive ophthalmic exam, imaging with spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence and vision measured with kinetic fields and full-field electroretinography (ffERG). RESULTS: A 67-year-old man presented with a history of blurred vision for about...

Read the complete abstract on PubMed

Topics

Humans
Male
Aged
Electroretinography
Tomography, Optical Coherence
Carrier Proteins

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

Phenotype

Mutation, Missense

Visual Acuity

Visual Fields

Fluorescein Angiography

Microfilament Proteins

Retinal Degeneration

Source

Open in PubMed

Identifiers

PMID: 42649536
DOI: 10.1080/13816810.2026.2717331

Genes

FSCN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 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

Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.PMID 42649536Read ↗

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.Semantic proximity Read ↗

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.Semantic proximity Read ↗

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.Semantic proximity Read ↗

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.Semantic proximity Read ↗

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.Semantic proximity Read ↗

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".Semantic proximity Read ↗

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.Semantic proximity Read ↗

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.Semantic proximity Read ↗

Natural history and biomarkers of KCNV2-associated retinopathy.Semantic proximity Read ↗

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.Semantic proximity Read ↗

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsSemantic proximity Read ↗

Unique retinal signaling defect in GNB5-related disease.Semantic proximity Read ↗

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