Results 51 to 60 of about 13,274 (216)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Effectiveness of Patching in Correcting Refractive Errors in Cases with Anisometropic Amblyopia

Türk Oftalmoloji Dergisi, 2011
Pur po se: To evaluate the effects of patching on refractive errors in patients with anisometropic amblyopia. Ma te ri al and Met hod: We evaluated retrospectively 81 cases (5-8 years old) which were applied patching treatment for unilateral ...
Aykut Arslan Yıldız, Yavuz Bardak
doaj   +1 more source

Changes in peripheral refraction, higher-order aberrations, and accommodative lag with a radial refractive gradient contact lens in young myopes [PDF]

, 2016
Purpose: To evaluate changes in the peripheral refraction (PR), visual quality, and accommodative lag with a novel soft radial refractive gradient (SRRG) experimental contact lens that produces peripheral myopic defocus.
Adler, Arumugam, Atchison, Atchison, Atchison, Bakaraju, Berntsen, Berntsen, Berntsen, Charman, Chen, Chen, Cheng, Cheng, Cho, Chung, Collins, Davies, de la Jara, Domínguez-Vicent, Edwards, Ehsaei, Faria-Ribeiro, Felipe-Marquez, Flitcroft, Fujikado, Fulk, González-Méijome, González-Méijome, Goss, Gustafsson, Gwiazda, Gwiazda, He, Hiraoka, Hiraoka, Jones-Jordan, Kang, Lam, Lee, Liu, Lopes-Ferreira, Lopes-Ferreira, Mutti, Mutti, Mutti, Mutti, Navarro, Pauné, Pauné, Plainis, Price, Queirós, Queirós, Radhakrishnan, Rosén, Sankaridurg, Santodomingo-Rubido, Saw, Seidemann, Smith, Smith, Smith, Smith, Smith, Smith, Smith, Sng, Stone, Tarrant, Thibos, Thibos, Vasudevan, Wagner, Walline, Walline, Wallman, Wolffsohn, Zhu, Zhu   +79 more
core   +3 more sources

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Correlation Between Stereoacuity and Experimentally Induced Graded Monocular and Binocular Astigmatism [PDF]

Journal of Clinical and Diagnostic Research, 2016
Introduction: Stereopsis, the highest grade of binocular single vision, is affected by various factors, such as mis-alignment of visual axes, refractive errors especially anisometropia and astigmatism, both of which may result in amblyopia. There are
Varsha Kulkarni, Neelam Puthran, Bhavna Gagal   +2 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Microelectromechanical system‐based devices for the diagnosis, treatment, and monitoring of ophthalmic diseases

Interdisciplinary Medicine, EarlyView.
Due to the characteristics of miniaturization, high sensing performance, integration, and high comfort, MEMS‐based devices were employed to design sensors, imaging systems, drug delivery systems, retinal prosthesis, surgical tools, and wearable products for the ophthalmic disease diagnosis, treatment, and monitoring.
Yaling Peng, Xiaoming Huang, Xueyuan Zhang, Yiling Jiang, Xin Zhang, Xueying Zeng, Fengyuan Sun, Peng Liu, Jin Zhou, Zewei Luo, Tong Wu   +10 more
wiley   +1 more source

Implantable collamer posterior chamber intraocular lenses : a review of potential complications [PDF]

, 2011
Artigo submetidoPURPOSE: To review the peer-reviewed literature reporting pstoperative complications of the most recent models of Visian Implantable Collamer posterior chamber intraocular lenses (ICL, STAAR Surgical Co).
Fernandes, Paulo Rodrigues, Ferrer-Blasco, Teresa, González-Méijome, José Manuel, Jorge, Jorge, Madrid-Costa, David, Montés-Micó, Robert   +5 more
core   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source