Titlebook: Retinal Dystrophy Gene Atlas; Sarwar Zahid,Kari Branham,Thiran Jayasundera Book 2018 Springer International Publishing AG, part of Springe

眼界

SLUMP

Paraplegia

MIR

,, encodes a centrosomal protein involved in ciliary assembly and ciliary trafficking. Mutations are responsible for autosomal recessive Leber’s congenital amaurosis (LCA), Joubert syndrome, and Bardet-Biedl Syndrome [1–3].

泥沼

Adenocarcinoma

Frequency

,, encodes battenin, a protein involved in lysosomal function and neuronal transport. Mutations in this gene are associated with a syndromic retinal degeneration, Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), as well as non-syndromic retinal degeneration [1].

paltry

reperfusion

過度

,,ethanolamine and all-trans-retinaldehyde as part of the visual cycle. Recessively inherited mutations can cause a variety of .-related retinopathies that includes Stargardt disease, fundus flavimaculatus, retinitis pigmentosa (rod-cone dystrophy)-like phenotype, cone dystrophy, and cone-rod dystroph