Bilateral progressive coats-type exudative retinopathy in Usher syndrome type IIIA from c.528T>G Clarin 1 (CLRN1) mutation

Autor: P Lindahl, Tero Kivelä, Em Sankila, M Täll, Ilkka Immonen, S Loukovaara

Publikováno v: Acta Ophthalmologica. 90

Purpose To describe bilateral, progressive, Coats-type exudative retinopathy in a boy with Usher syndrome type IIIA. Methods An interventional case report from a tertiary referral center. Results A 9-year-old boy with a hearing loss of medium severit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::82c99ee11a2c6e6d800ef82374856a4b
https://doi.org/10.1111/j.1755-3768.2012.2461.x

A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.

Autor: Järvinen MA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Baraas RC; National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway., Majander A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Backlund MP; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Krootila J; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Paavo M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lindahl P; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Vasara K; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sankila EM; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kivelä TT; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2024 Oct 22. Date of Electronic Publication: 2024 Oct 22.

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.

Autor: Majander A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sankila EM; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Falck A; Department of Ophthalmology, PEDEGO Research Unit and Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland., Vasara LK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Seitsonen S; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kulmala M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Haavisto AK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Avela K; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Eye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. 215-221. Date of Electronic Publication: 2022 Sep 21.

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.

Autor: Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Ku C; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., da Palma MM; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Georgiou M; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Schiff ER; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Lam BL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Sankila EM; Department of Ophthalmology, Helsinki University Eye Hospital, Helsinki, Finland., Ahn J; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Ophthalmology, Seoul National University, College of Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, South Korea., Pyers L; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Vincent A; Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Canada.; Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Ferraz Sallum JM; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Oh JK; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.; College of Medicine, State University of New York at Downstate Medical Center, Brooklyn, NY, USA., Maldonado RS; Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, KY, USA., Ryu J; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA., Tsang SH; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Gorin MB; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2021 Dec; Vol. 42 (6), pp. 664-673. Date of Electronic Publication: 2021 Jul 05.

Macular spatial distribution of preserved autofluorescence in patients with choroideremia.

Autor: Hariri AH; Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA.; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA., Ip MS; Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA.; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA., Girach A; Nightstar Therapeutics, London, UK., Lam BL; Bascom Palmer Eye Institute, University of Miami Miller, School of Medicine, Miami, Florida, USA., Fischer MD; Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Sankila EM; Helsinki University Eye Hospital, Helsinki, Finland., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Holz FG; Department of Ophthalmology, University of Bonn, Bonn, Germany., Maclaren RE; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Universityof Oxford and Oxford University Eye Hospital, NHS Foundation Trust, NIHR Biomedical Research Centre, Oxford, UK.; Moorfields Eye Hospital, NHS Foundation Trust, NIHR Biomedical Research Centre, London, Texas, USA., Birch DG; Retina Foundation of the Southwest, Dallas, Texas, USA., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., MacDonald IM; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada., Black GC; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK., Tsang SH; Department of Ophthalmology, Columbia University, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University, New York, New York, USA., Bressler NM; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stepien KE; Department of Ophthalmology & Visual Sciences, Madison, Wisconsin, USA., Larsen M; Department of Ophthalmology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA., Meunier I; Eye Clinic, Hôpital Robert Debré, CHRU de Reims, Reims, France., Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, London, UK., Sadda S; Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA ssadda@doheny.org.; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA.

Publikováno v: The British journal of ophthalmology [Br J Ophthalmol] 2019 Jul; Vol. 103 (7), pp. 933-937. Date of Electronic Publication: 2018 Oct 08.