The etiology of the highly myopic condition has been unclear for decades. We investigated
the genetic contributions to early-onset high myopia (EOHM), which is defined as having a …

Today, genomic data holds great potential to improve healthcare strategies across various
dimensions–be it disease prevention, enhanced diagnosis, or optimized treatment. The …

Retinitis pigmentosa is one of the major forms of inherited retinal dystrophy transmitted in all
Mendelian and non-Mendelian forms of inheritance. It involves the loss of retinal …

Photoreceptor cell degeneration and death is the major hallmark of a wide group of human
blinding diseases including age-related macular degeneration and inherited retinal …

FAM161A mutations are the most common cause of inherited retinal degenerations in Israel.
We generated a knockout (KO) mouse model, Fam161a tm1b/tm1b, lacking the major exon# …

Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness
affecting close to 1 in 10 000 people worldwide. Disease severity varies largely according to …

FAM161A mutations are the most common cause of autosomal recessive retinitis
pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of …

Progressive retinal atrophies (PRAs) are a genetically heterogeneous group of inherited eye
diseases that affect over 100 breeds of dog. The initial clinical sign is visual impairment in …

AIM To detect the pathogenetic mutations responsible for nonsyndromic autosomal
recessive retinitis pigmentosa (RP) in 2 nonconsanguineous Chinese families. METHODS …

Background: Familial exudative vitreoretinopathy (FEVR) is an inheritable retinal vascular
disease, which often leads to severe vision loss and blindness in children. However …