Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.

Autor: Chattannavar G; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India., Ger M; Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Visakhapatnam, India., Balasubramanian J; Centrogene Rare Disease Diagnostics, Germany., Mandal S; Department of Ophthalmology, All India Institute of Medical Sciences, New Delhi, India., Jalali S; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India.; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India., Takkar B; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India., Pisuchpen P; Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; Division of Academic Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., de Guimaraes TAC; Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Capasso JE; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA., Kumar Padhy S; Vitreo-Retina, Anant Bajaj Retina Institute, L. V. Prasad Eye Institute, Bhubaneswar, India., Levin AV; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 616-622. Date of Electronic Publication: 2024 Oct 15.

Clinical variability of BBS1 across siblings.

Autor: Giang V; Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA vgiang@pennstatehealth.psu.edu., Weber SR; Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA.; Kellogg Eye Center, Michigan Medicine, Ann Arbor, Michigan, USA., Sundstrom JM; Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA.; Kellogg Eye Center, Michigan Medicine, Ann Arbor, Michigan, USA.

Publikováno v: BMJ case reports [BMJ Case Rep] 2024 Dec 10; Vol. 17 (12). Date of Electronic Publication: 2024 Dec 10.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Autor: Dollfus H; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. dollfus@unistra.fr.; Université de Strasbourg, UMRS_1112, Strasbourg, France. dollfus@unistra.fr., Lilien MR; ERKNet Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., Maffei P; Endo-ERN Department of Medicine (DIMED), 3rd Medical Clinic, Padua University, Padua, Italy., Verloes A; ERN-ITHACA Department of Genetics, AP-HP - Université de Paris; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Muller J; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Bacci GM; ERN-EYE Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy., Cetiner M; ERKNet Children's Hospital, Pediatrics II, University of Essen, Essen, Germany., van den Akker ELT; Endo-ERN Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands., Grudzinska Pechhacker M; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Testa F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Lacombe D; ERN-ITHACA Department of Medical Genetics, CHU Bordeaux, INSERM Unit_1211, Laboratory 'Rare Diseases: Genetics and Metabolism', University of Bordeaux, Bordeaux, France., Stokman MF; ERKNet Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Simonelli F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gouronc A; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Université de Strasbourg, UMRS_1112, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Gavard A; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van Haelst MM; ERN-ITHACA Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Koenig J; ERKNet University Children's Hospital Muenster, Muenster, NRW, Germany., Rossignol S; Endo-ERN Département de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Zacchia M; ERKNet Division of Nephrology, Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Leroy BP; ERN-EYE Department of Ophthalmology & Department of Head & Skin, Ghent University Hospital and Ghent University, Ghent, Belgium.; Center for Cellular and Molecular Therapeutics and Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mosbah H; Endo-ERN Department of Endocrinology, Diabetology & Nutrition, University Hospital of Poitiers, Poitiers, France., Van Eerde AM; ERKNet Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mekahli D; ERKNet PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Servais A; ERKNet Department of Kidney and Metabolic Diseases, Transplantation and Clinical Immunology, Necker Hospital, AP-HP, Centre of Reference for the French Nationwide MARHEANetwork (CNR-MARHEA), Paris, France.; Inserm U1163, Imagine Institute, Paris, France., Poitou C; Endo-ERN Centre de Référence pour les obésités rares (CRMR PRADORT), Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, INSERM, Nutrition & Obesities: Systemic Approaches Research Group (NutriOmics), Paris, France., Valverde D; CINBIO, Universidad de Vigo, Grupo de Investigación en Enfermedades Raras, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Vigo, Spain.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1347-1360. Date of Electronic Publication: 2024 Jul 31.

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Autor: Pincay J; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA.; State University of New York at Downstate Medical Center, Brooklyn, NY, USA., Rodriguez M; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA., Kaushal D; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA., Tsang SH; Department of Ophthalmology, Columbia University Irving Medical Center, Vanderbilt Clinic 622 W 168th St 3rd Floor, New York, NY, 10032, USA. sht2@cumc.columbia.edu.; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY, USA. sht2@cumc.columbia.edu.

Publikováno v: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Oct; Vol. 149 (2), pp. 133-138. Date of Electronic Publication: 2024 Jul 30.

Refractive errors in patients with Bardet Biedl syndrome.

Autor: Yavuz Saricay L; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Baldwin G; Harvard Medical School, Boston, Massachusetts, USA., Moulton EA; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Boston, Massachusetts, USA., Gonzalez E; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rajabi F; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 435-440. Date of Electronic Publication: 2024 Jul 02.