Cone Dystrophy 4

Alternative Names

  • COD4
  • Achromatopsia 5, Included
  • ACHM5, Included
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613093

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q23.33

Description

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613093.G.1Saudi ArabiaUnknownNo Cone/cone-rod dystrophyNM_006204.4:c.939+5G>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
613093.G.2Saudi ArabiaUnknownNo Cone/cone-rod dystrophyNM_006204.4:c.1946T>CHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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