Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families
نویسندگان
چکیده
منابع مشابه
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
PURPOSE To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was perf...
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PURPOSE To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected a...
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Report of a Case. A 56-year-old woman had a 2-month history of decreased vision and mild discomfort in the left eye. She had a history of penetrating injuryat theageof8years that led to traumatic cataract and corneal scarring in her left eye. Two years before we saw her, she had undergone uncomplicatedcombinedcataractextraction and lens implantation with penetrating keratoplasty elsewhere. Ther...
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PURPOSE To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families. METHODS A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Genomic DNA was extracted, and genome-wide linkage and/or exclusion analyses were completed with fluo...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2011
ISSN: 0007-1161
DOI: 10.1136/bjo.2010.189076