Leber Congenital Amaurosis 8

Alternative Names

  • LCA8
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613835

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q31.3

Description

Leber's congenital amaurosis (LCA) is a group of rare inherited retinal dystrophies characterized by vision loss, often from birth. LCA is the most severe form of all inherited retinal dystrophies, accounting for at least 5% of these, and is one of the main causes of blindness in children. Diagnosis is based on clinical history of failure to develop reactions to visual stimuli, roving eye movements or nystagmus, sluggish pupillary responses and a normal, or less frequently, an abnormal fundus on dilated fundoscopy. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613835.1.1LebanonMaleYesNo Visual impairment ; Nystagmus ; Ca...NM_201253.2:c.1772_1775del, NM_201253.2:c.2234C>THeterozygousAutosomal, RecessiveJalkh et al, 2014 Father of 600105.1.1
613835.1.2LebanonFemaleYesNo Visual impairment ; Exotropia ; Pendul...NM_201253.2:c.1772_1775del, NM_201253.2:c.2234C>THeterozygousAutosomal, RecessiveJalkh et al, 2014 Paternal aunt of 600...
613835.1.3LebanonMaleYesNo Visual impairmentNM_201253.2:c.1772_1775del, NM_201253.2:c.2234C>THeterozygousAutosomal, RecessiveJalkh et al, 2014 Paternal uncle of 60...
613835.1.4LebanonMaleYesNo Visual impairmentNM_201253.2:c.1772_1775del, NM_201253.2:c.2234C>THeterozygousAutosomal, RecessiveJalkh et al, 2014 Paternal uncle of 60...
613835.2.1Saudi ArabiaFemaleYesNo Deeply set eye ; Nystagmus ; Optic atr...NM_201253.3:c.2024G>AHomozygousAutosomal, RecessiveLi et al. 2009
613835.2.2Saudi ArabiaMaleYesNo Deeply set eye ; Nystagmus ; Macular d...NM_201253.3:c.2024G>AHomozygousAutosomal, RecessiveLi et al. 2009 Brother of 613835.2....
613835.3United Arab EmiratesFemale Visual impairment; NystagmusNM_201253.3:c.2677-7T>AHomozygousAutosomal, RecessiveKhan. 2020
613835.4United Arab EmiratesFemale Visual impairment; NystagmusNM_201253.3:c.2234C>THomozygousAutosomal, RecessiveKhan. 2020
613835.5United Arab EmiratesMale Visual impairment; NystagmusNM_201253.3:c.2911A>G, NM_201253.3:c.3447G>CCompound heterozygousAutosomal, RecessiveKhan. 2020
613835.6.1SyriaFemaleYesYes Retinal dystrophy; Rod-cone dystrophyNM_201253.3:c.2555T>CHomozygousAutosomal, RecessiveHasan et al. 2016
613835.6.2SyriaMaleYesYes Macular atrophy; Foveal atrophyNM_201253.3:c.2555T>CHomozygousAutosomal, RecessiveHasan et al. 2016 Sibling of 613835.6....
6613835.3.1LebanonMaleYesNo Bull's eye maculopathy; Congenital blin...NM_201253.2:c.1345C>THomozygousAutosomal, RecessiveYzer et al, 2006
613835.G.1PalestineUnknownYesYes Visual impairmentNM_201253.3:c.4121_4130delHomozygousAutosomal, RecessiveGerber et al. 2002 Group consisting of ...
613835.G.2PalestineUnknownYes Visual impairmentNM_001257966.1:c.455G>AHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
613835.G.3PalestineUnknownYes Visual impairmentNM_001257966.1:c.1733T>AHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
613835.G.4PalestineUnknownYes Visual impairmentNM_001257966.1:c.1842delTHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
613835.G.5PalestineUnknownYes Visual impairmentNM_201253.3:c.2555T>CHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
613835.G.6PalestineUnknownYes Visual impairmentNM_201253.3:c.4121_4130delHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
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