Leber Congenital Amaurosis 3

Alternative Names

  • LCA3
  • Retinitis Pigmentosa, Juvenile, SPATA7-Related
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

604232

Mode of Inheritance

Unknown

Gene Map Locus

14q31.3

Description

Leber's congenital amaurosis (LCA) refers to a group of rare inherited retinal dystrophy characterized by vision loss, often from birth. LCA is the most severe form of all inherited retinal dystrophies. It accounts for at least 5% of all such retinal dystrophies, and is also one of the main causes of blindness in children. The estimated birth prevalence of LCA is two to three per 100,000 births. There are at least 13 types of Leber congenital amaurosis. These types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.

Clinical 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. To date, no definitive treatment or cure for LCA exists.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604232.1.1Saudi ArabiaMaleYesYes Visual impairment; Abnormal visual fixa... NM_018418.5:c.322C>THomozygousAutosomal, RecessiveLi et al. 2009; Wang et al. 2009
604232.1.2Saudi ArabiaMaleYesYes Visual impairment; Abnormal visual fix... NM_018418.5:c.322C>THomozygousAutosomal, RecessiveLi et al. 2009; Wang et al. 2009 Brother of 604232.1....
604232.1.3Saudi ArabiaMaleYesYes Visual impairment; Abnormal visual fi... NM_018418.5:c.322C>THomozygousAutosomal, RecessiveLi et al. 2009; Wang et al. 2009 Sister of 604232.1.1
604232.2Saudi ArabiaMaleNoYes Visual impairment... NM_018418.5:c.960dupHomozygousAutosomal, RecessiveWang et al. 2009
604232.3United Arab EmiratesFemaleNoYes Retinal dystrophy; Delayed speech and la... NM_018418.5:c.288T>AHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
604232.G.1YemenUnknownYesYes Visual impairment... NM_018418.5:c.1171C>THomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...

Other Reports

Saudi Arabia

Stockton et al. (1998) reported a large consanguineous Saudi Arabian kindred segregating Leber congenital amaurosis. In addition to poor visual acuity (typically less than 5/200), affected individuals manifested moderate midfacial hypoplasia with enophthalmos, complex vertical, horizontal, and rotatory nystagmus present from early life, moderate hypermetropic refractive errors with astigmatism, and various presentations of esotropia and exotropia. At least four individuals had hospital-based electroretinograms, which were nonrecordable in both photopic and scotopic components in the first two years of life.

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