Leber Congenital Amaurosis 12

Alternative Names

  • LCA12

Associated Genes

Retinal Degeneration 3
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

610612

Description

LCA is characterized by severely reduced visual acuity (less or equal 20/400) or blindness within in the first year of life. Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the genetic cause. The Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing is pathognomonic. LCA may be associated with mutations in genes linked to syndromes presenting with neurodevelopmental delay, intellectual disability, oculomotor apraxia-type behavior (difficulty moving the eye) and renal dysfunction. Leber congenital amaurosis-12 (LCA12) is caused by homozygous mutation in the RD3 gene on chromosome 1q32. [From Orphanet] 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610612.4.1AlgeriaFemaleYes Congenital nystagmus; Reduced visual ac... NM_183059.2:c.137_138delHomozygousAutosomal, RecessivePerrault et al. 2013 No other relatives r...
610612.3.1LebanonFemaleYesYes Congenital nystagmus; Macular atrophy; ... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 Proband. The patient...
610612.3.2LebanonFemaleYesYes Reduced visual acuity; Hypermetropia... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 Sister of patient 61...
610612.3.3LebanonMaleYesYes Reduced visual acuity; Hypermetropia... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 Brother of patient 6...
610612.1.1MoroccoFemaleNoYes Congenital nystagmus; Reduced visual ac... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 No affected relative...
610612.2.1MoroccoFemaleYesYes Congenital nystagmus; Reduced visual ac... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 Proband.
610612.2.2MoroccoFemaleYesYes Congenital nystagmus; Reduced visual ac... NM_183059.2:c.112C>THomozygousAutosomal, RecessivePerrault et al. 2013 Sister of patient 61...
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