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Inherited Color Blindness

MedGen UID:
155489
•Concept ID:
C0751042
•
Disease or Syndrome
Synonym: Color Blindness, Inherited

Definition

Genetic based difficulty in distinguishing colors. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited Color Blindness

Professional guidelines

PubMed

Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.
Hanna K, Nieves J, Dowd C, Bender KO, Sharma P, Singh B, Renz M, Ver Hoeve JN, Cepeda D, Gelfman CM, Riley BE, Grishanin RN
Mol Ther 2023 Jul 5;31(7):2014-2027. Epub 2023 Mar 16 doi: 10.1016/j.ymthe.2023.03.011. PMID: 36932675Free PMC Article
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.
Pascual-Camps I, Barranco-Gonzalez H, Aviñó-Martínez J, Silva E, Harto-Castaño M
J Pediatr Ophthalmol Strabismus 2018 Mar 1;55(2):85-92. Epub 2017 Dec 19 doi: 10.3928/01913913-20171117-01. PMID: 29257187
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.
Gardner JC, Michaelides M, Hardcastle AJ
S Afr Med J 2016 May 25;106(6 Suppl 1):S75-8. doi: 10.7196/SAMJ.2016.v106i6.11001. PMID: 27245533

Recent clinical studies

Etiology

Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.
Carroll J, Neitz M, Hofer H, Neitz J, Williams DR
Proc Natl Acad Sci U S A 2004 Jun 1;101(22):8461-6. Epub 2004 May 17 doi: 10.1073/pnas.0401440101. PMID: 15148406Free PMC Article

Diagnosis

Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.
Carroll J, Neitz M, Hofer H, Neitz J, Williams DR
Proc Natl Acad Sci U S A 2004 Jun 1;101(22):8461-6. Epub 2004 May 17 doi: 10.1073/pnas.0401440101. PMID: 15148406Free PMC Article

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    Related information

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      Related Medical Subject Headings
    • PMC Articles
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