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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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Year : 2016  |  Volume : 23  |  Issue : 1  |  Page : 139-141

Novel mutations in two Saudi patients with congenital retinal dystrophy

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

Correspondence Address:
Igor Kozak
King Khaled Eye Specialist Hospital, Riyadh 11462
Kingdom of Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-9233.171779

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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

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