Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Autor: Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl

Publikováno v: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318

Acquired Comitant Esotropia in Children and Young Adults: Clinical Characteristics, Surgical Outcomes, and Association With Presumed Intensive Near Work With Digital Displays

Autor: Özlem Ural Fatihoglu, Pinar Topcu Yilmaz, E. Cumhur Sener

Publikováno v: Journal of pediatric ophthalmology and strabismus. 57(4)

Purpose: To describe the clinical characteristics and surgical outcomes of acquired comitant esotropia with symptomatic diplopia. Methods: The clinical features and surgical outcomes of 27 patients with diplopia due to acquired comitant esotropia wer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8dfa1718bcf23f5c782ea1d82ef9f6
https://pubmed.ncbi.nlm.nih.gov/32687210

Ocular Causes of Abnormal Head Position: Strabismus Clinic Data

Autor: Emin Cumhur Sener, Ali Sefik Sanac, Esra Vural, Jale Karakaya, İrem Koç, Kadriye Erkan Turan, Hande Taylan Sekeroglu

Publikováno v: Türk Oftalmoloji Dergisi, Vol 47, Iss 4, Pp 211-215 (2017)
Turkish Journal of Ophthalmology

Objectives: To determine the most common ocular causes and types of abnormal head position (AHP) and describe their clinical features. Materials and Methods: Patients with AHP who had been followed in the strabismus unit were retrospectively reviewed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19c5ab5dd978bdb141b9db2cb940d34
http://www.oftalmoloji.org/article_15221/Ocular-Causes-Of-Abnormal-Head-Position-Strabismus-Clinic-Data

Botulinum toxin-A injection in esotropic Duane syndrome patients up to 2 years of age

Autor: E. Cumhur Sener, Pinar Topcu Yilmaz, Özlem Ural Fatihoglu

Publikováno v: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 23(1)

Purpose To evaluate the role of botulinum toxin-A (BTX) injection as the primary treatment for patients with esotropic Duane retraction syndrome ≤2 years of age. Methods The medical records of patients with esotropic Duane syndrome who underwent un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fd5eb462f995a29f8ea43629264b4bb
https://pubmed.ncbi.nlm.nih.gov/30654143

Effect of Visual Acuity on the Surgical Outcomes of Secondary Sensory Strabismus

Autor: Kadriye Erkan Turan, Hande Taylan Sekeroglu, Emin Cumhur Sener, Ali Sefik Sanac

Publikováno v: Türk Oftalmoloji Dergisi, Vol 45, Iss 6, Pp 254-258 (2015)
Turkish Journal of Ophthalmology

Objectives: To investigate the outcomes of secondary sensory strabismus surgery and to discuss the effect of visual acuity on success. Materials and Methods: The medical records of patients with sensory strabismus who underwent recession-resection on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82375cf95569a1bff269679e69a90a28
http://www.oftalmoloji.org/article_9938/Effect-Of-Visual-Acuity-On-The-Surgical-Outcomes-Of-Secondary-Sensory-Strabismus