Entity family
Named diseases, disorders, syndromes, injuries, and health conditions. Examples include epilepsy, diabetes, stroke.
This disease is selected. Its supporting articles are shown below.
…2 families, 141 patients). PRPH2 (95.0% AD) was associated with retinitis pigmentosa (RP) and macular dystrophies. ABCC6 (91.3% AR) was linked to ps…
…e therapies in improving best-corrected visual acuity (BCVA) in retinitis pigmentosa (RP). Secondary outcomes investigated included electroretinogra…
…etinal dystrophies and shall now be tested for the treatment of glaucoma. Stimulation of the diseased retina with weak currents can acti…
…5 (right) and 6/9 (left). The main differential diagnosis was a mitochondrial disease, and so we also looked for signs of mitochondrial retinopathies…
…ensity (12.4%) than the macular dystrophy phenotype (15.6%). In ABCA4, the most severe phenotype and genotype groups had significantl…
…pigmentosa, 25.3/100 000; X-linked retinoschisis, 10.7/100 000; Usher syndrome, 8.9/100 000; choroideremia, 7/100 000 and cone or cone-rod dys…
…tis pigmentosa (187; 46.4%), macular dystrophy (115; 28.5%) and cone rod dystrophy (41; 10.2%) were the most common clinical diagnoses. Among all …