Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis.

Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res. 2020 Jul 04;:108135 Authors: Whiting REH, Robinson GO, Ota-Kuroki J, Lim S, Castaner LJ, Jensen CA, Kowal J, Nguyen A, Corado C, O'Neill CA, Katz ML Abstract CLN2 neuronal ceroid lipofuscinosis is a rare recessive hereditary retinal and neurodegenerative disease resulting from deleterious sequence variants in TPP1 that encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Children with this disorder develop normally, but starting at 2-4 years of age begin to exhibit neurological signs and visual deficits. Vision loss that progresses to blindness is associated with progressive retinal degeneration and impairment of retinal function. Similar progressive loss of retinal function and retinal degeneration occur in a dog CLN2 disease model with a TPP1 null sequence variant. Studies using the dog model were conducted to determine whether intravitreal injection of recombinant human TPP1 (rhTPP1) administered starting after onset of retinal functional impairment could slow or halt the progression of retinal functional decline and degeneration. TPP1 null dogs received intravitreal injections of rhTPP1 in one eye and vehicle in the other eye beginning at 23.5-25 weeks of age followed by second injections at 34-40 weeks in 3 out of 4 dogs. Ophthalmic exams, in vivo ocular imaging, and electroreti...
Source: Experimental Eye Research - Category: Opthalmology Authors: Tags: Exp Eye Res Source Type: research