Do you know 'Ursher's Syndrome' where you lose both sight and hearing?
Oct 09, 2024
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Usher syndrome is a disease that makes it difficult to see and hear. Retinitis pigmentationosa, which causes vision loss, and the problem of the cochlear duct in the ear, are refractory genetic diseases that lead to autosomal recesses in children.
It is autosomal recessive inheritance, and it is inherited with equal probability without any difference in gender between men and women. If both parents are Usher syndrome gene carriers, the probability of developing the syndrome in their children is one-fourth. If you receive a normal gene from one of your parents and a mutated gene from the other, your child becomes a mutated gene but does not show symptoms.
Usher's syndrome accounts for 3% to 6% of the causes of congenital hearing loss. It appears in 1.8 to 6.2 patients per 100,000, and the number of patients in Korea is estimated to be about 8000.
Professor Yoon Joon-myung of the Department of Ophthalmology at the Catholic University of Korea's Incheon St. Mary's Hospital said, `If you are late and have hearing loss on both sides even after 18 months of life, you can suspect Usher's syndromeAbout half of patients without both hearing and vision are known to be caused by Usher's syndrome.
The name Usher syndrome comes from the Scottish ophthalmologist Charles Howard Usher, who published an On the Inheritance of Retinitis pigmentosa in 1914.
Usher's syndrome is divided into three types (I to III) depending on the symptoms or onset of disease. Type 1 Usher syndrome (USH1) is the most severe form, with both high- and deep hearing loss and impaired vestibular (equilibrium) function. Due to impaired vestibular function, the sense of balance is deteriorated, and the timing of starting a baby is delayed to 18 to 24 months, and the body is misbalanced and tilted and falls easily. Night blindness, which is difficult to see in the dark before the age of 10, occurs, and in adolescence, retinal pigment degeneration occurs and vision is gradually lost.
Type 2 Usher's syndrome (USH2) is the most common form and naturally shows moderate to high hearing loss. However, the vestibular function has no problem in balancing the body normally, and the baby is also around 12 months old and shows normal balance development. Retinal degeneration occurs after the twenties, resulting in decreased vision.
Type 3 Usher syndrome (USH3) has no major problems in balancing hearing, vision, and body at birth. However, after language development, various degrees of advanced sensory nerve hearing loss, retinal pigment degeneration, and vestibular dysfunction begin to show, and the degree becomes worse after puberty.
Typical symptoms include ▶ progressive vision loss ▶ tunnel vision ▶ night blindness ▶ pigmented retinitis ▶ real name (abnormal vision) ▶ innate hearing loss ▶ progressive hearing loss ▶ hearing impairment (abnormal hearing) ▶ abnormal sense of equilibrium. Usher's syndrome is diagnosed through hearing tests, vision tests, vestibular function tests, and genetic tests for hearing and vision disorders.
The treatment for Usher's syndrome is not yet known. However, research for gene therapy is currently being actively conducted. Regarding hearing loss, vision loss, and vestibular function decline, it is necessary to find ways to help depending on the condition of each function and make active efforts. Type 1 patients with severe hearing impairments need auditory rehabilitation such as hearing aids or artificial wow transplants or rehabilitation such as speech therapy. In the case of type 2 patients, the use of hearing aids and language education early may enable normal language development. Special glasses can be helpful for vision loss. In addition, if it is difficult to balance the body well due to abnormal vestibular function, it is necessary to improve balance function and body sensibility through balanced rehabilitation training, and measures to prevent falls.
Professor Jun-Myung Yoon explained, "Usher's syndrome generally goes through a process in which symptoms worsen over time, and in serious cases, it can lead to hearing impairment and blindness"However, the severity of symptoms varies from individual to individual, and not everyone suffers from the same symptoms. There is no fundamental treatment yet, but it is necessary to detect symptoms early and actively respond to make the most of the remaining senses using hearing aids, artificial wows, and visual aids depending on the degree of symptoms of each individual.
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