Bestrophinopathy, Autosomal Recessive

Alternative Names

  • ARB

Associated Genes

Bestrophin 1
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

611809

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q12.3

Description

Autosomal recessive bestrophinopathy is an ophthalmic disorder marked by central visual loss, an absent electrooculogram (EOG) light rise, a reduced electroretinogram (ERG) and a characteristic retinopathy. Visual loss often manifests in the first two decades of life. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
611809.1.1LebanonFemaleYesYes Yellow/white lesions of the macula; Exu...NM_004183.4:c.209A>GHomozygousAutosomal, RecessiveJaffal et al, 2019 Proband
611809.1.2LebanonMaleYesNo Vitelliform-like macular lesionsNM_004183.4:c.209A>G, NM_004183.4:c.1403C>THeterozygousAutosomal, RecessiveJaffal et al, 2019 Son of 611809.1.1
611809.1.3LebanonMaleYesNo Vitelliform-like macular lesionsNM_004183.4:c.209A>G, NM_004183.4:c.1403C>THeterozygousAutosomal, RecessiveJaffal et al, 2019 Son of 611809.1.1
611809.2.1LebanonFemaleNoYes Vitelliform-like macular lesions; Exud...NM_004183.4:c.830C>THomozygousAutosomal, RecessiveJaffal et al, 2019
611809.3.1LebanonFemaleYesNo Vitelliform-like macular lesions; Exuda...NM_004183.4:c.1403C>THomozygousAutosomal, RecessiveJaffal et al, 2019 Proband
611809.3.2LebanonFemaleYesNo Vitelliform-like macular lesions; Exud...NM_004183.4:c.1403C>THomozygousAutosomal, RecessiveJaffal et al, 2019 Sister of 611809.3.1
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