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Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.

Safieh LA, Al-Otaibi HM, Lewis RA, Kozak I - Middle East Afr J Ophthalmol (2016 Jan-Mar)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

ABSTRACT

Unlabelled: 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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Related in: MedlinePlus

Family pedigree of Case 1. Arrow point to the affected proband
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Figure 1: Family pedigree of Case 1. Arrow point to the affected proband

Mentions: Eighteen months later, her examination revealed classical oculodigital sign, moderate bilateral enophthalmos, irregular nystagmus, disc with temporal pallor, mild neuroepithelial atrophy, and mild retinal vascular attenuation. Based on the clinical signs and course, the child was diagnosed with LCA. The family pedigree is shown in Figure 1. After genetic testing, the family never returned for follow-up examination and discussions.


Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.

Safieh LA, Al-Otaibi HM, Lewis RA, Kozak I - Middle East Afr J Ophthalmol (2016 Jan-Mar)

Family pedigree of Case 1. Arrow point to the affected proband
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4759893&req=5

Figure 1: Family pedigree of Case 1. Arrow point to the affected proband
Mentions: Eighteen months later, her examination revealed classical oculodigital sign, moderate bilateral enophthalmos, irregular nystagmus, disc with temporal pallor, mild neuroepithelial atrophy, and mild retinal vascular attenuation. Based on the clinical signs and course, the child was diagnosed with LCA. The family pedigree is shown in Figure 1. After genetic testing, the family never returned for follow-up examination and discussions.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

ABSTRACT

Unlabelled: 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.

Show MeSH
Related in: MedlinePlus