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The oculocerebrorenal syndrome of Lowe: an update [PDF]

Pediatric Nephrology, 2016
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete ...
Arend Bokenkamp, Michael Ludwig, Ludwig Michael   +2 more
exaly   +6 more sources

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe [PDF]

Journal of Radiology Case Reports, 2014
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented.
Sanjay Prabhu, Naman S Desai
exaly   +4 more sources

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review [PDF]

BMC Medical Genomics, 2021
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou   +6 more
doaj   +2 more sources

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, Teodora Karamfilova, Mariya Levkova, Mariya Gaydarova, Sonya Galcheva, Dimitrichka Bliznakova   +5 more
doaj   +2 more sources

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis [PDF]

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +2 more sources

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management. [PDF]

Eur J Ophthalmol, 2020
Background Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe ( OCRL) gene are found in Lowe syndrome patients.
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y, Sun Y.   +8 more
europepmc   +4 more sources

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. [PDF]

PLoS ONE, 2013
Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents ...
Na Luo, Akhilesh Kumar, Michael Conwell, Robert N Weinreb, Ryan Anderson, Yang Sun   +5 more
doaj   +2 more sources

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, Wenzhe Zhang, Leyi Wang, Wenhui Liu, Hui Guo   +4 more
doaj   +2 more sources

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions [PDF]

Kidney International Reports
Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in
Rini Rossanti, Eri Okada, Nana Sakakibara, Ryota Suzuki, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu   +15 more
doaj   +2 more sources

Cataracts and Glaucoma in Patients With Oculocerebrorenal Syndrome [PDF]

JAMA Ophthalmology, 2003
Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules. Other ocular findings include glaucoma, corneal opacity (keloid), enophthalmos, and hypotonia.To describe the treatment of 7 patients (14 eyes) with ...
Amy K Hutchinson, Richard A Saunders
exaly   +3 more sources