Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract [PDF]
Heliyon, 2022 Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at ...
Flavien Rouxel +9 more
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Orphanet Journal of Rare Diseases, 2006 Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney.
Loi Mario
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Management of cataract surgery in Lowe syndrome [PDF]
International Journal of Ophthalmology, 2022 AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens removal, the development and management of secondary glaucoma.
Katharina Eibenberger +4 more
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Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome [PDF]
Frontiers in Medicine, 2022 We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development.
Chen Wang +4 more
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Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome [PDF]
Children, 2023 Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
Violeta Iotova +5 more
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Modelling Lowe syndrome and Dent-2 disease using zebrafish [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. The phenotype manifests in the eyes, brain and kidney, with the extra-renal features milder in the case of Dent-2 disease.
Martin Lowe
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Clinical variation in Lowe syndrome: what and how? [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells.
Eileen D. Brewer
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Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome [PDF]
Frontiers in Cell and Developmental Biology, 2022 Megalin/LRP2 is the primary multiligand receptor for the re-absorption of low molecular weight proteins in the proximal renal tubule. Its function is significantly dependent on its endosomal trafficking.
Lisette Sandoval +3 more
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dOCRL maintains immune cell quiescence by regulating endosomal traffic. [PDF]
PLoS Genetics, 2017 Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL.
Steven J Del Signore +7 more
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Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases [PDF]
Brazilian Journal of Nephrology, 2010 INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi. OBJETIVO:
Marta Liliane de Almeida Maia +5 more
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