Mutations in the gene (MYO7A) encoding myosin‐VIIa, a member of the large superfamily of
myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene …

The diagnosis of a heritable (Mendelian) eye condition can have a significant impact on
patients and their families. Although a diverse group of conditions, many Mendelian eye …

The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and
clinically heterogeneous. In the past 4 years, genes mutated in Usher syndrome type Ib and …

Deafness on the island of providencia-colombia: different etiology, different genetic
counseling: Providencia is a small island located in the Caribbean Ocean, northwest of …

Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis
pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are …

Se realiza un estudio de nueve pacientes sordo ciegos atendidos en el Centro Provincial de
Retinosis Pigmentaria de Sancti Spíritus en el año 1999. Se utilizaron como variables la …

Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely
rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital …

Usher sendromu US konjenital işitme kaybı ile birlikte seyreden retinitis pigmentozaya RP
bağlı progressif görme bozukluğu ile ortaya çıkan otozomal resesif bir hastalıktır. Görme ile …

Two sisters ages 10 and 11 were admitted to our clinic for control examination. Vision level
of the case aged 10 (1st case) was 1.0 on both eyes, and corrected vision level of the case …

Usher syndrome is an autosomal recessive disorder characterized by a congenital
sensorineural hearing loss of varying severity and a progressive visual loss and nyctalopia …