Results 71 to 80 of about 15,997 (234)

Retinal Dystrophies

Chawla H, Tripathy K, Vohra V.
europepmc   +2 more sources

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. [PDF]

, 2015
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries.
Ansar, M., Bibi, R., Iqbal, J., Jarral, A., Nikopoulos, K., Nishiguchi, K.M., Rivolta, C., Sajid, S., Saqib, M.A., Sher Khan, F., Ullah, E., Venturini, G.   +11 more
core   +2 more sources

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

A Novel Time-Aware Deep Learning Model Predicting Myopia in Children and Adolescents

Ophthalmology Science
Objective: To quantitatively predict children’s and adolescents’ spherical equivalent (SE) by leveraging their variable-length historical vision records. Design: Retrospective analysis.
Ana Maria Varošanec, MD, Leon Marković, MD, Zdenko Sonicki, MD, PhD   +2 more
doaj   +1 more source

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

Decline of Visual Function and Risk of Legal Blindness With Age in RPGR‐Associated Retinal Degeneration: A Multicenter Study

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background This retrospective multicenter longitudinal analysis analysed the loss trajectory of best recorded visual acuity (BRVA) and Goldmann visual field (GVF) in RPGR‐associated retinal degeneration (RPGR‐RD). Methods Patients with genetically confirmed RPGR‐RD were classified into rod‐cone (RC), cone/cone‐rod (CR) and female‐carrier ...
Bela J. Parekh, Joshua D. Stein, Rebhi Abuzaitoun, Chris A. Andrews, Kari Branham, Dejan Milentijevic, Divya Narayanan, Naheed W. Khan, Suzann Pershing, Sophia Y. Wang, Baseer U. Ahmad, Thomas B. Connor, Jennifer L. Patnaik, Marc Mathias, Monique Leys, Brian McMillan, Nnana Amakiri, Taylor J. Johnson, Catherine Q. Sun, Jacque L. Duncan, K. Thiran Jayasundera, on behalf of the SOURCE consortium, Sejal Amin, Paul A. Edwards, Divya Srikumaran, Fasika Woreta, Jeffrey S. Schultz, Anurag Shrivastava, Baseer Ahmad, Louis R. Pasquale, Paul J. Bryar, Dustin D. French, Michelle Hribar, Merina Thomas, Brian L. Vanderbeek, Suzann Pershing, Sophia Y. Wang, Michael Deiner, Catherine Sun, Jennifer Patnaik, Prem Subramanian, Saleha Munir, Wuqaas Munir, Joshua Stein, Lindsey De Lott, Rajeev Ramachandran, Robert Feldman, Brian C. Stagg, Barbara Wirostko, Brian McMillian, Arsham Sheybani, Soshian Sarrapour, Kristen Harris‐Nwanyanwu   +52 more
wiley   +1 more source

Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases

Frontiers in Cell and Developmental Biology, 2018
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist.
Christine L. Xu, Christine L. Xu, Galaxy Y. Cho, Galaxy Y. Cho, Galaxy Y. Cho, Jesse D. Sengillo, Jesse D. Sengillo, Jesse D. Sengillo, Karen S. Park, Karen S. Park, Vinit B. Mahajan, Vinit B. Mahajan, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang   +15 more
doaj   +1 more source

The Cone Dysfunction Syndromes [PDF]

, 2016
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J, Carroll, J, Dubis, AM, Harcastle, AJ, Michaelides, M   +4 more
core  

Identifying mutations in Tunisian families with retinal dystrophy. [PDF]

, 2016
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed.
Allaman-Pillet, N., Chebil, A., El Matri, L., Falfoul, Y., Habibi, I., Kort, F., Schorderet, D.F.   +6 more
core   +3 more sources

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source