Leber Congenital Amaurosis 13

Alternative Names

  • LCA13
  • Retinitis Pigmentosa 53
  • RP53
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

612712

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q24.1

Description

Mutations in the RDH12 gene have been found to be associated with Leber Congenital Amaurosis 13. LCA13 is an inherited retinal dystrophy that is characterized by involuntary movements of the eyes (nystagmus), sluggish pupillary responses, roving eye movement, extreme farsightedness (hyperopia), crossed eyes (strabismus), and sensitivity to light (photophobia).  LCA patients may also suffer from keratoconus, a condition where the cornea is abnormally thin and cone shaped.  The disorder results in severe visual impairment and electroretinogram studies of affected patients show little to no electrical activity in the retina.  A key symptom of the disorder in children is Franceschetti’s oculo-digital sign, a tendency to poke, press and rub the eyes.  This often results in deep-set, sunken eyes known as enophthalmus. Other symptoms that can develop include cataracts, glaucoma and corneal problems.

The disorder usually affects children at birth or within the first year of life. LCA affects about 2 to 3 newborns per 100,000 and is one of the most common causes of blindness in children.  LCA is diagnosed based on ophthalmological examinations, electroretinogram studies and genetic mutation tests.  While there is currently no cure for LCA, the disorder can be managed by the use of low vision optical aids to maximize visual function.  Routine ophthalmic follow-ups are also recommended to evaluate the presence of cataract and glaucoma.

Mutations in the RDH12 gene can also cause a form of Retinitis Pigmentosa classified as RP53.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612712.1.1Saudi ArabiaYesYes Rod-cone dystrophyNM_152443.3:c.226G>CHomozygousAutosomal, RecessiveAldahmesh et al. 2009
612712.1.2Saudi ArabiaMaleYesYes Rod-cone dystrophyNM_152443.3:c.226G>CHomozygousAutosomal, RecessiveAldahmesh et al. 2009 Brother of 612712.1....
612712.1.3Saudi ArabiaMaleYesYes Rod-cone dystrophyNM_152443.3:c.226G>CHomozygousAutosomal, RecessiveAldahmesh et al. 2009 Brother of 612712.1....
612712.2Saudi ArabiaUnknownNo Rod-cone dystrophyNM_152443.3:c.139G>A, NM_152443.3:c.379G>TCompound heterozygousAutosomal, RecessivePatel et al. 2016
612712.3Saudi ArabiaFemale Retinal dystrophyNM_152443.3:c.139G>AHomozygousAutosomal, RecessiveMonies et al. 2017
612712.G.1Saudi ArabiaUnknownYesYes Rod-cone dystrophyNM_152443.3:c.139G>AHomozygousAutosomal, RecessivePatel et al, 2018 4 members of a famil...
612712.G.2Saudi ArabiaUnknownYes Rod-cone dystrophyNM_152443.3:c.379G>THomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
612712.G.3Saudi ArabiaUnknownNo Retinal dystrophyNM_152443.3:c.139G>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
612712.G.4Saudi ArabiaUnknownNo Rod-cone dystrophyNM_152443.3:c.139G>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
612712.G.5Saudi ArabiaUnknownNo Rod-cone dystrophyNM_152443.3:c.226G>CHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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