Leber Congenital Amaurosis 5

Alternative Names

  • LCA5

Associated Genes

Leberilin LCA5
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

604537

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6q14.1

Description

LCA5, a rare subset of Leber congenital amaurosis, is a retinal dystrophy characterized by loss in visual acuity, hyperopia and pendular nystagmus. Patients often display Franceschetti's oculo-digital sign, a behavior involving repeatedly pressing or rubbing the eyes with the fingers. Apart from the pigmentary retinopathy, fundus atrophy and colobomatous appearance associated with retinal dystrophy, patients also exhibit a markedly reduced response to electrophysiological stimulation. Unlike other types of LCA, this condition is not associated with multi-system abnormalities. Patients that have been studied thus far have shown normal neurologic, hepatic and renal function. The disorder has an early-infantile onset and is progressive in nature, resulting in complete vision loss over time.

LCA5 follows an autosomal recessive pattern of inheritance and is caused by homozygous mutations in the LCA5 gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604537.1United Arab EmiratesFemale Rod-cone dystrophyNM_181714.4:c.923delHomozygousAutosomal, RecessiveKhan. 2020

Other Reports

Saudi Arabia

Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 3-year-old male, suffered from an atrial septal defect, failure to thrive, growth retardation, fine/gross motor delay, speech delay, learning disability, stereotypic behaviors, cleft lip, blindness and congenital heart disease. Using whole exome sequencing, a homozygous mutation (c.763C>T, p.R255X) was identified in exon 4 of the patient’s LCA5 gene. This mutation explained the LCA phenotype, while the remaining congenital anomalies were attributed to an additional unidentified variant. 

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