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

Long-term follow-up of a Chinese patient with KCNV2-retinopathy.

Ophthalmic genetics - 1 Apr 2021

Lie Hongxuan, Wang Gang, Liu Xiao, Meng Xiaohong, Long Yanling, Ren Jiayun, Yang Lizhu, Fujinami-Yokokawa Yu, Kurihara Toshihide, Tsubota Kazuo, Fujinami Kaoru, Li Shiying

Abstract excerpt

Purpose: To characterize and monitor the clinical and electrophysiological features of a Chinese patient with KCNV2 retinopathy.Methods: A 17-year-old Chinese male with the diagnosis of cone dystrophy with supernormal rod response (CDSRR) was followed-up for 5 years, with full ophthalmological examinations, including decimal best corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF)...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Genetic Testing

Share to Polymorphism, Single Nucleotide

Share to Potassium Channels, Voltage-Gated

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 33372566
DOI: 10.1080/13816810.2020.1861307

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

Long-term follow-up of a Chinese patient with KCNV2-retinopathy.PMID 33372566Read ↗

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.Semantic proximity Read ↗

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

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.Semantic proximity Read ↗

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

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.Semantic proximity Read ↗

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

[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram].Semantic proximity Read ↗

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

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.Semantic proximity Read ↗

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.Semantic proximity Read ↗

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.Semantic proximity Read ↗

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

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