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Jun 15, 2024 · Usher syndrome (USH; OMIM:276900) is an autosomal recessive disorder characterized by RP and hearing loss, with or without vestibular dysfunction. Therefore, the syndrome is clinically classified into three subtypes based on the severity and progression of vision and hearing loss and the presence of balance . USH type 2 (USH2), the most common ...
Jun 28, 2024 · Usher syndrome, for example, is characterized by RP, congenital hearing loss, and, in some cases, vestibular dysfunction. Bardet-Biedl syndrome, another syndromic form of RP, is...
Jun 17, 2024 · Scientists at the Lions Eye Institute and Ear Science Institute Australia are one step closer to developing personalised therapies for Usher syndrome, the most common form of inherited deaf-blindness, thanks to a prestigious Medical Research Future Fund (MRFF) grant.
Jun 8, 2024 · Imagine living in a world where your sight and hearing slowly fade away. That's life with Usher Syndrome. Discover the symptoms, navigate the journey, and explore treatment options, all wrapped in hope and resilience. Let's unpack Usher Syndrome together!
4 days ago · Usher syndrome is a rare genetic condition that causes deaf-blindness, affecting approximately one in 6,000 people worldwide. This condition involves hearing loss, progressive vision deterioration, and sometimes problems with balance.
Jun 14, 2024 · Abstract. Background Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families.
Jun 9, 2024 · Zellweger spectrum disorder, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence or reduction of functional peroxisomes. It is autosomal recessive due to a defect in the PEX gene. It is a rapidly progressive disorder with a high mortality rate.
