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Retinal Dystrophy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Retinal Dystrophy" returned 6 free, full-text review articles. First few results:
Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.
Last Updated: Jul 23, 2019

Genetic testing is a medical test that studies human DNA to discover genetic changes or mutations that could lead to genetic disease. Genetic testing is performed on samples of DNA that can be obtained from blood, hair, skin, saliva, amniotic fluid, or other tissues. The test results ...

Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).
Last Updated: Jul 23, 2019

In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as ...

Full PubMed Review articles matches at NCBI:
6 Free Review Articles 16 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Retinal Dystrophy" returned 0 free, full-text editorial articles. First 0 results:
Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Retinal Dystrophy" returned 132 free, full-text research articles. First few results:
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Last Updated: Feb 05, 2020

The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mutations in the β-tubulin 4B isotype-encoding ...

Pathogenicity Reclasssification of Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Last Updated: May 12, 2020

A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose ...

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.
Last Updated: Jun 26, 2020

Human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different iPSC lines were generated and characterized ...

Full PubMed Research articles matches at NCBI:
132 Free Research Articles 358 Research Articles