Type 2a usher syndrome12/13/2023 ![]() Nightblindness is apparent in the 1st or 2nd decade accompanied by an extinguished electroretinogram (ERG) and profound loss of visual field. Patients with USH 1 are profoundly deaf from birth, have unintelligible speech and absent vestibular function. Interfamilial differences in USH patients are greater than intrafamilial differences and investigators have proposed at least two distinct phenotype types Usher Syndrome type 1 (USH 1) and Usher Syndrome type 2 (USH 2) (Fishman 1983). Affected individuals have congenital neurosensory hearing impairment of variable severity and a progressive pigmentary retinal degeneration commonly referred to as retinitis pigmentosa. The Usher Syndromes (USH), characterized by autosomal recessive inheritance, are genotypically distinct diseases which share specific phenotypic characteristics. For gene studies, blood samples will be collected from patients and all available family members. A caloric stimulation test will also be done, in which a small amount of water is irrigated into the ear canal. Balance and coordination tests require tasks such as walking in a straight line and standing in the dark with eyes closed. Hearing tests include physical examination of the ears and wearing earphones while listening to tones. Special hearing and balance tests will also done. ![]() An electroretinogram will be done to measure the function of cells in the retina, and a procedure called fluorescein angiography will be done to look at and photograph the blood vessels in the retina. They will undergo a thorough eye examination, including special tests of color vision, field of vision, and ability to see in the dark. Study participants will have a medical and family history taken and a family tree constructed. This study will use these tests to classify these syndromes and eventually identify the genes responsible for them. The development of newer and more sophisticated diagnostic tests may detect subtle differences in signs and symptoms that allow more accurate distinction between the two types of Usher syndrome. All patients develop eye problems that cause difficulty seeing in the dark. Patients with type 2 disease generally are hearing impaired but have no balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. The purpose of this investigation is to gain additional knowledge about what causes type 1 and type 2 Usher syndrome-inherited diseases that can cause balance problems and impaired hearing and vision-and to develop better diagnostic tests. Why Should I Register and Submit Results?.Earlier study findings were not supported by our data. There were no fertility problems in our group of Usher 2A patients, nor have any been mentioned in Usher patients in general. The latter finding was of little relevance, however, in view of the normal motility of the spermatozoa observed in these patients. ![]() Except for a significantly increased pH value, no abnormalities were found in the functional semen analysis, whereas electron microscopy revealed microtubular tail abnormalities. The fertility status of the study group of Usher 2A patients was evaluated, including semen analysis, supplemented by electron microscopic examination of the spermatozoa. The semen of 6 Usher 2A patients was analysed. In the framework of clinical genetic research into Usher syndrome, a pilot study was set up to test these findings. ![]() Semen analysis in patients with Usher syndrome suggested that defective connecting cilia axonemes may be involved in the irreversible, progressive loss of photoreceptors in Usher’s syndrome. ![]()
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