Results 31 to 40 of about 370,744 (189)

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism

Diagnostics
We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p.
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source

Additional file 2 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

, 2022
Additional file 2: Phenotypic and mutational spectrum of 194 North African families with non-syndromic inherited retinal ...
Ghita Amalou (12538812), Aymane Bouzidi (12538809), Hicham Charoute (3208407), Majida Charif (326461), Mostafa Kandil (3208404), Guy Lenaers (10199487), Abdelhamid Barakat (326464)   +6 more
core   +1 more source

Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa

International Journal of Retina and Vitreous, 2019
Degenerative retinal disease leads to significant visual morbidity worldwide. Diabetic retinopathy and macular degeneration are leading causes of blindness in the developed world.
Parker E. Ludwig, S. Caleb Freeman, Adam C. Janot   +2 more
doaj   +1 more source

Additional file 3 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

, 2022
Additional file 3: Phenotypic and mutational spectrum of 143 North African families with syndromic inherited retinal ...
Ghita Amalou (12538812), Aymane Bouzidi (12538809), Hicham Charoute (3208407), Majida Charif (326461), Mostafa Kandil (3208404), Guy Lenaers (10199487), Abdelhamid Barakat (326464)   +6 more
core   +1 more source

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

Scientific Reports, 2022
Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness.
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García   +6 more
doaj   +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

Intelligent Micro/Nanorobots for Targeted Interventional Therapy: From Bench to Clinic

Advanced Robotics Research, EarlyView.
Zirui Zhang et al. reviewed the application and challenges of mobile nanomachines in interventional therapy. By converting exogenous energy, including chemical, magnetic, optical, and ultrasonic sources, into mechanical forces, micro/nanorobots (MNRs) enable precise actuation at unprecedented scales. Evolving far beyond traditional drug delivery, these
Zirui Zhang, Yu Dong, Yongsheng Du, Rui Gao, Lin Zhang, Fei Tong   +5 more
wiley   +1 more source

Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia

Clinical and Experimental Optometry, EarlyView., 2020
Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood, Jasleen K Jolly, Colm D Andrews, Iain R Wilson, Doron Hickey, Jasmina Cehajic‐Kapetanovic, Robert E MacLaren   +6 more
wiley   +1 more source

Giant Cyst of Dermis-Fat Graft in a Child with MRSA—Case Report

Children
Background/Objectives: This case report presents a unique case of multiple postoperative complications, including sterile silicone implant extrusion, symblepharon formation, and the development of a giant cyst, following extensive multimodal chemotherapy
Biljana Kuzmanović Elabjer, Mirjana Bjeloš, Ana Ćurić, Daliborka Miletić, Mladen Bušić   +4 more
doaj   +1 more source