scholar.google.com › citations
Oct 29, 2024 · Refraction of both eyes: Usually, retinal dystrophies, including retinitis pigmentosa, cone-rod dystrophy, gyrate atrophy of the retina, and RPE ...
Missing: Novel | Show results with:Novel
People also ask
What are inherited retinal dystrophies?
What are the classification of retinal dystrophies?
What is the most common inherited form of retinitis pigmentosa?
Is retinal dystrophy a disability?
Aug 4, 2023 · Inherited retinal diseases (IRDs) consist of various types of hereditary retinal dystrophies that are primarily involving the outer retina and ...
Updating the Genetic Landscape of Inherited Retinal Dystrophies
www.frontiersin.org › articles › full
Depending on the photoreceptor initially affected, IRD can be classified into cone, rod-cone, or cone-rod dystrophies in those cases in which both are affected ...
Jul 31, 2023 · The term describes a heterogeneous group of progressive retinal dystrophies characterized by a primary degeneration of rod photoreceptors that ...
Inherited dystrophies that involve the macula, such as cone degeneration, X-linked retinoschisis, ABCA4-associated macular degeneration (Stargardt disease), and ...
Inherited Retinal Dystrophies ; Visibility, Public ; Description, Inherited retinal dystrophy (IRD) as one of the rare ocular diseases encompasses different types ...
The main IRDs characterized by the genetic tests include retinitis pigmentosa, Leber Congenital Amaurosis, Stagardt disease, and cone dystrophy. Examples of ...
Inherited retinal dystrophy (IRD) is a class of monogenic, vision-impairing disorders that are caused by retinal degeneration. IRD includes retinitis pigmentosa ...
Feb 19, 2021 · ABCA4 variants are known to be a major cause of Stargardt disease as well as some autosomal recessive RP. However, macular dystrophy, including ...
Jul 13, 2021 · We identified 120 pathogenic or likely pathogenic variants; 30 of them were novel. Among the cone-rod dystrophy patients, ABCA4 was the most ...