Results 161 to 170 of about 417,668 (180)

XXYLT1 and Mendelian Retinal Dystrophy.

JAMA Ophthalmol
Kraatari-Tiri M, Ishtiaq H, Tyrmi J, Lin S, Valkama A, Tiirikka T, Äikäs S, Lähteenoja L, Wright G, Schiff E, Jestin A, Webster AR, Mahroo OA, Michaelides M, Moilanen J, Pylkäs K, Kettunen J, Arno G, Falck A, Mantere T, Rahikkala E, FinnGen Project.   +21 more
europepmc   +1 more source

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2020
Leber congenital amaurosis (LCA) and early‐onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood.
Fernanda Porto, Gavin Arno, Juliana M F Sallum   +2 more
exaly   +2 more sources

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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Ophthalmology, 2023
Christina T Kozycki, Daniel L. Kastner, Lloyd Williams   +2 more
exaly  

Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations

Clinical and Experimental Ophthalmology, 2023
Sheng Chiong Hong, Andrea L. Vincent, Verity Todd   +2 more
exaly  

Outer retinal tubulations in maternally inherited diabetes & deafness – associated macular dystrophy: case report

Ophthalmic Genetics, 2020
Michael Karampelas, Maria Syriga
exaly  

Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan

Clinical and Experimental Ophthalmology, 2020
Keng-Hung Lin, Ren-Juan Shen, Xiu-Feng Huang   +2 more
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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Lancet, The, 2017
Leslie Raffini, Francesca Simonelli, Chris A. Johnson   +2 more
exaly