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Middle East Afr J Ophthalmol. 2016 Jan-Mar;23(1):139-41. doi: 10.4103/0974-9233.171779.

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.

Author information

1
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
2
Department of Ophthalmology, Medicine, Pediatrics, Molecular and Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA.

Abstract

To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.

CASE REPORTS:

Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.

KEYWORDS:

Alström Syndrome; Congenital Retinal Dystrophy; Leber Congenital Amaurosis

PMID:
26957854
PMCID:
PMC4759893
DOI:
10.4103/0974-9233.171779
[Indexed for MEDLINE]
Free PMC Article

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