Results 261 to 270 of about 18,568,522 (331)

Diagnosis of early glaucoma likely combined with high myopia by integrating OCT thickness map and standard automated and Pulsar perimetries. [PDF]

Sci Rep
Yang AS, Wang HS, Li TJ, Liu CH, Chen CM.   +4 more
europepmc   +1 more source

Why acute decreased vision in patients with high myopia is an emergency?

, 2014
Hajji Chaimae, R. Daoudi
openalex   +1 more source

Correlation of Structure With Function: Future Utilities for Optical Coherence Tomography Angiography in Neuro‐Ophthalmology

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Optical coherence tomography angiography is a burgeoning imaging modality in Ophthalmology. In this review, we outline the breadth of potential utility for optical coherence tomography angiography for diagnosis and prognostication in neuro‐ophthalmology.
Marzieh Tahmasebi Sarvestani, Sudha Cugati, Celia Chen   +2 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia

, 2015
Olivier Cases, Antoine Joseph, Antoine Obry, Mathieu Santin, Sirine Ben-Yacoub, Michel Pâques, Amsellem-Levera Sabine, Ana Bribián, Manuel Simonutti, Sébastien Augustin, Thomas Debeir, José‐Alain Sahel, Annabel Christ, Fernando de Castro, Stéphane Lehéricy, Pascal Cosette, Renata Kozyraki   +16 more
openalex   +2 more sources

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, EarlyView.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source

Decentration following small incision lenticule extraction (SMILE) in eyes with high myopia and its influence factors. [PDF]

Indian J Ophthalmol
Lin HN, Zeng H, Ji R, Li J, Zhang R, Sun L.   +5 more
europepmc   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

Efficacy of combining posterior scleral contraction and intravitreal C₃F₈ injection in high myopia with macular hole retinal detachment. [PDF]

Int J Ophthalmol
Chen S, Ye J, Pan QT, Huang F, Zheng LY, Ye HF, Su YF, Li Y, Zhu SQ.   +8 more
europepmc   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source