Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management
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چکیده
منابع مشابه
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe.
A 3-months old infant born to non-consanguineous parents was evaluated for hypotonia and developmental delay. He had a cataract in left eye, congenital glaucoma and megalocornea in right eye with no other dysmorphism. Anterior fontanelle was widely open. He was hypotonic with diminished tendon reflexes. Hypermobility was noted around both elbows and knees. There were unusual multiple skin folds...
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Dr. Sergio Eiji Ono – Rua Brigadeiro Franco 122 80430-120 Curitiba PR Brasil. E-mail: [email protected] The oculocerebrorenal syndrome of Lowe (OCRL), was first recognized as a distinct disease in 1952 by Drs. Lowe, Terrey and MacLachlan at Massachusetts General Hospital, in Boston, USA, describing three male children with organic aciduria, decreased renal ammonia production, hydrophtalmos a...
متن کاملA First Reported Case of Oculocerebrorenal Syndrome of Lowe in Hong Kong and Review of Literature
Received January 3, 2007 Abstract Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked recessive disorder characterised by congenital cataracts, mental retardation, and renal tubular dysfunction. OCRL is caused by mutations in the OCRL gene, which encodes for an enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase [PtdIns (4,5)P2-5ase]. Deficiency of this enzyme impairs proper intr...
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the aim of conducting this study was to investigate the foreign language learning needs of undergraduate economics students and business management students in faculties of social sciences of alzahra and azad naragh university. in the study, which was designed on the basis of a qualitative-quantitative basis using interviews and questionnaires, 146 female undergraduate business management as we...
15 صفحه اولSelective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal ...
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ژورنال
عنوان ژورنال: European Journal of Ophthalmology
سال: 2020
ISSN: 1120-6721,1724-6016
DOI: 10.1177/1120672120920544