Correction: Novel PDE6B Mutation Presenting with Retinitis Pigmentosa – A Case Series of Three Patients
نویسندگان
چکیده
منابع مشابه
A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family
PURPOSE To screen the mutation in the retinitis pigmentosa GTPase regulator (RPGR) ORF15 in a large Chinese family with X-linked recessive retinitis pigmentosa and describe the phenotype in affected male and female carriers. METHODS Ophthalmic examination was performed on 77 family members to identify affected individuals and to characterize the disease phenotype. PCR and direct sequencing we...
متن کاملSimultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملStudy of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations
Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirt...
متن کاملRetinitis pigmentosa associated with a mutation in BEST1
Purpose There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. Here, we present a patient with a clinical phenotype consistent with classic features of RP. Obser...
متن کاملA novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa
PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify the causative gene in a patient from a consanguineous family with childhood-onset severe retinal dystrophy...
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ژورنال
عنوان ژورنال: Klinische Monatsblätter für Augenheilkunde
سال: 2019
ISSN: 0023-2165,1439-3999
DOI: 10.1055/a-0853-8855