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

Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.

Clinical genetics - 1 Dec 2025

Rao Mythri K, Nadig Ramya R, Syed Ali Fathima Afrin J, Sripriya Sarangapani, Periasamy Porkodi, Keerti Ramavath Sree, Bhende Muna

Abstract excerpt

In this report, we describe the clinical features and spectrum of gene variants of an Indian cohort with Stargardt disease (STGD). We reviewed the medical records of 98 eyes of 49 patients with STGD who underwent colour fundus photography, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), full-field electroretinography (FFERG) and genetic testing using an NGS panel. Demographic data,...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP-Binding Cassette Transporters

Share to Genetic Association Studies

Share to Macular Degeneration

Share to Stargardt Disease

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 40519068
DOI: 10.1111/cge.14778

Genes

ABCA4
CNGB3
ERG
PDE6A
PROM1
TULP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.PMID 40519068Read ↗

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Semantic proximity Read ↗

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.Semantic proximity Read ↗

Clinical and molecular characteristics of childhood-onset Stargardt disease.Semantic proximity Read ↗

Early-onset stargardt disease: phenotypic and genotypic characteristics.Semantic proximity Read ↗

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.Semantic proximity Read ↗

Clinical and genetic characteristics of late-onset Stargardt's disease.Semantic proximity Read ↗

Unusual clinical phenotype of Stargardt disease.Semantic proximity Read ↗

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.Semantic proximity Read ↗

Study of Late-Onset Stargardt Type 1 DiseaseSemantic proximity Read ↗

Stargardt disease-associated mutation spectrum of a Russian Federation cohort.Semantic proximity Read ↗

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean PatientsSemantic proximity Read ↗

Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.Semantic proximity Read ↗

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