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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomesExpand
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Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused byExpand
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Laser in situ keratomileusis versus surface ablation: Visual outcomes and complications
PURPOSE: To compare the visual outcomes and complications of laser in situ keratomileusis (LASIK) with those of surface treatment by laser‐assisted subepithelial keratectomy (LASEK), photorefractiveExpand
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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowedExpand
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Primary pediatric keratoplasty: indications, graft survival, and visual outcome.
BACKGROUND Penetrating keratoplasty in children has been documented to have a higher rate of graft failure and a worse visual prognosis than adult keratoplasty. METHODS We undertook a retrospectiveExpand
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Ocular complications of Rift Valley fever outbreak in Saudi Arabia.
OBJECTIVE To report ocular complications of Rift Valley fever (RVF) during its first reported outbreak in southwest Saudi Arabia in autumn 2000. DESIGN Cross-sectional study of patients in aExpand
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A novel locus for Leber congenital amaurosis on chromosome 14q24
Abstract Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. WeExpand
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Incidence, Clinical Features, Causative Organisms, and Visual Outcomes of Delayed-Onset Pseudophakic Endophthalmitis
Purpose To report the incidence, clinical features, causative organisms, and visual outcomes associated with delayed-onset pseudophakic endophthalmitis. Methods We retrospectively reviewed theExpand
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Analysis and comparison of proteomic profiles of tear fluid from human, cow, sheep, and camel eyes.
PURPOSE To investigate the tear proteome profiles of human, cow, sheep, and camel comparatively and to explore the difference of tear protein profiles among different species. METHODS Tears wereExpand
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Ophthalmology in the Kingdom of Saudi Arabia.
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