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 …

Abstract Background Inherited retinal degenerations (IRDs) are a group of rare genetic
conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 …

Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and
autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS and the …

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal
recessive (ar), autosomal dominant (ad), and X-linked inheritance. Recently, arRP has been …

Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied
populations: Mexico and Pakistan as well as a third well-studied population of European …

Purpose.: To screen for disease-causing mutations in the Eyes shut homolog (EYS) gene in
Japanese patients with retinitis pigmentosa (RP). Methods.: Blood samples were obtained …

Mutations in eyes shut homolog (EYS), a secreted extracellular matrix protein containing
multiple laminin globular (LG) domains, and in protein O-mannose β1, 2-N …

Mutations in Eyes shut homolog (EYS) are one of the most common causes of autosomal
recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function …

Purpose Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal
disorder. Despite tremendous knowledge about the genes involved in RP, little is known …

Purpose Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal
recessive retinitis pigmentosa (arRP). This study used multimodal retinal imaging to …