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Cone dystrophy

disorder
SNOMED 312917007CUI C0730290

Overview

Cone dystrophy is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Dystrophies, Cone" from the MEDLINE/PubMed database.

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A novel homozygous missense variant incauses cone dystrophy in a consanguineous Pakistani family.
[object Object], [object Object], [object Object] et al. · Ophthalmic Genet · 2025
PMID: 39568138Case Report
A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.
[object Object], [object Object], [object Object] et al. · Ophthalmic Surg Lasers Imaging Retina · 2024
PMID: 39172222Case Report
Progressive Cone Dystrophy and Cone-Rod Dystrophy.
[object Object], [object Object], [object Object] et al. · Adv Exp Med Biol · 2025
PMID: 40736814Review
Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.
[object Object], [object Object] · Genes (Basel) · 2024
PMID: 38927662ReviewFull text (PMC)
The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
[object Object], [object Object], [object Object] · Pflugers Arch · 2021
PMID: 34255151Review
-Deficient Retinal Organoid Model of Cone Dystrophy-In Vitro Screening for AAV Gene Replacement Therapy.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2025
PMID: 41516321OtherFull text (PMC)
Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures.
[object Object], [object Object], [object Object] et al. · Eye (Lond) · 2025
PMID: 39821145OtherFull text (PMC)
ANALYSIS OF HENLE FIBER LAYER AND OUTER RETINAL LAYERS IN CONE DYSTROPHY.
[object Object], [object Object], [object Object] et al. · Retina · 2025
PMID: 39454067Other
Phenotypic and genotypic features of-associated cone dystrophy.
[object Object], [object Object], [object Object] · Ophthalmic Genet · 2024
PMID: 37246743Other
Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.
[object Object], [object Object], [object Object] et al. · Transl Vis Sci Technol · 2024
PMID: 39087930OtherFull text (PMC)
Search all PubMed articles for Cone dystrophy

Research data from MEDLINE/PubMed

Related Conditions

Progressive cone dystrophy (without rod involvement)(child)
Cone dystrophy with supernormal rod response(child)
Retinohepatoendocrinologic syndrome(child)
Achromatopsia(child)
Blue cone monochromatism(child)
Hereditary retinal dystrophy(parent)

Quick Facts

SNOMED CT
312917007
UMLS CUI
C0730290
Fully Specified Name
Cone dystrophy (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.