Nature of the Visual Loss in Observers With Leber's Congenital Amaurosis Caused by Specific Mutations in RPE65 | Zendy

Caterina Ripamonti | Zendy; G. Bruce Henning | Zendy; Robin R. Ali | Zendy; James Bainbridge | Zendy; Scott Robbie | Zendy; Vanita Sundaram | Zendy; Vy Luong | Zendy; L. Ingeborgh van den Born | Zendy; Ingele Casteels | Zendy; Thomy de Ravel | Zendy; Anthony T. Moore | Zendy; Andrew Stockman | Zendy

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Nature of the Visual Loss in Observers With Leber's Congenital Amaurosis Caused by Specific Mutations in RPE65

Author(s) -

Caterina Ripamonti,

G. Bruce Henning,

Robin R. Ali,

James Bainbridge,

Scott Robbie,

Vanita Sundaram,

Vy Luong,

L. Ingeborgh van den Born,

Ingele Casteels,

Thomy de Ravel,

Anthony T. Moore,

Andrew Stockman

Publication year - 2014

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.14-14923

Subject(s) - rpe65 , illuminance , visual phototransduction , cis trans isomerases , scotopic vision , visual acuity , choroideremia , retinal , optics , contrast (vision) , spectral sensitivity , ophthalmology , medicine , biology , physics , genetics , retinal pigment epithelium , wavelength , peptidylprolyl isomerase , isomerase , gene

To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the RPE-specific isomerase, RPE65. RPE65 is an important component of the retinoid cycle that restores 11-cis-retinal after its photoisomerization to its all-trans form. The defects investigated here cause Leber's congenital amaurosis (LCA2), an autosomal, recessively-inherited, severe, congenital-onset rod-cone dystrophy.

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