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Jan 31, 2021
Clinical Characteristics and Natural History of RHO-Associated RP
A multi-center, chart review of 100 patients with RHO-associated adRP. Based on central visual fields, the optimal window of intervention is
Jul 30, 2020
RHO-associated autosomal dominant RP
Scheie Eye Institute | 51 North 39th Street | Philadelphia, PA 19104 | July 30, 2020 SUMMARY "Inherited retinal diseases (IRDs) refer to...
Jun 25, 2020
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation
We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent . .
Aug 19, 2018
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector
For arRP and X-linked retinal degenerations, significant progress has been achieved in the field of gene therapy as evidenced by . . .
Jun 30, 2018
ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.
Jan 1, 1996
A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa
With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families.
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