Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maciej Robert Krawczynski"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision los
Externí odkaz:
https://doaj.org/article/c2106545b8a344c988059b0b3b693dd5
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)
Abstract Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in th
Externí odkaz:
https://doaj.org/article/d7aac159211542d7afe3f813e23a5828
Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
Publikováno v:
Diagnostics, Vol 12, Iss 11, p 2701 (2022)
Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (ar
Externí odkaz:
https://doaj.org/article/893473b46e454b788822d66985d0c2f9