The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000–8000
individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is …

Background O-mannosyl glycans have been found in a limited number of glycoproteins of
the brain, nerves, and skeletal muscles, particularly in α-dystroglycan (α-DG). Defects in O …

Photoreceptor dysfunctions and degenerative diseases are significant causes of vision loss
in patients, with few effective treatments available. Targeted interventions to prevent or …

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis
pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently …

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

Zebrafish are an instrumental system for the generation of photoreceptor degeneration
models, which can be utilized to determine underlying causes of photoreceptor dysfunction …

Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy
characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The …

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The
prevalence of RP and the mutation spectrum vary across populations. Hispanic people …

Importance Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG)
is a rare disorder ofN-linked glycosylation. Its retinal phenotype is not well described but …