The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

The Usher syndrome is an autosomal recessive disorder that cause bilateral sensorineural hearing loss and progressive loss of vision. It is genetically heterogeneous and is the most frequent cause of hereditary deafness and blindness in human. There are three types of Usher syndrome that can be distinguished clinically and into different subtypes. Type 2 Usher syndrome is the most common form and less severe than Type 1. It is characterized by congenital, moderate to severe, high frequency sloping hearing loss, retinitis pigmentosa which is typically diagnosed in late adolescence, and normal vestibular function. Recently, we have experienced a case of clinically diagnosed Type 2 Usher syndrome in a 34 years old female. We report this case with a brief review of literature. This is the first Type 2 Usher Syndrome to be reported in the otolaryngologic field in Korea.
Adolescent ; Blindness ; Deafness ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Retinitis Pigmentosa ; Usher Syndromes ; Vision, Ocular

Diabetes insipidus is a disorder caused by complete or partial deficiency or unresponsiveness to antidiuretic hormone. Both diabetes mellitus and diabetes insipidus are well-known causes of polyuria and polydipsia. Although Wolfram Syndrome, which is characterized by the concurrence of diabetes mellitus and diabetes insipidus along with optic atrophy and ataxia, is frequently reported, the concurrence of diabetes insipidus and type 2 diabetes mellitus without optic atrophy and deafness is rare. We report a 31-year-old woman presenting with hyperglycemic hyperosmolar syndrome caused by type 2 diabetes mellitus complicated with concurrent central diabetes insipidus.
Adult ; Ataxia ; Deafness ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Hyperglycemia ; Optic Atrophy ; Polycystic Ovary Syndrome ; Polydipsia ; Polyuria ; Wolfram Syndrome

Diabetes insipidus is a disorder caused by complete or partial deficiency or unresponsiveness to antidiuretic hormone. Both diabetes mellitus and diabetes insipidus are well-known causes of polyuria and polydipsia. Although Wolfram Syndrome, which is characterized by the concurrence of diabetes mellitus and diabetes insipidus along with optic atrophy and ataxia, is frequently reported, the concurrence of diabetes insipidus and type 2 diabetes mellitus without optic atrophy and deafness is rare. We report a 31-year-old woman presenting with hyperglycemic hyperosmolar syndrome caused by type 2 diabetes mellitus complicated with concurrent central diabetes insipidus.
Adult ; Ataxia ; Deafness ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Hyperglycemia ; Optic Atrophy ; Polycystic Ovary Syndrome ; Polydipsia ; Polyuria ; Wolfram Syndrome

Objective: To investigate the variation of genes associated with Usher syndrome type 1(USH1)in 136 Chinese deafness families from Henan province. Methods: The data of 136 deafness families tested by next-generation sequencing(NGS) which identified in the center of genetics and prenatal diagnosis of the First Affiliated Hospital of Zhengzhou University from November 2016 to December 2019 were analysized and the variation frequency of six genes related to Usher syndrome type 1(MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2) were summarized. Results: Five deafness families were detected nine pathogenic or likely pathogenic variations in two genes, accounting for 3.7% of all families. Among them, four families were caused by MYO7A variations and one family was caused by CDH23 variation. Meanwhile, seven variations of two genes were reported for the first time. They were c.313delG, c.5257dupA, c.5435A>T, c.5636G>C, c.5722T>G of MYO7A, and c.155_166del, c.4802delA of CDH23. The patients' vision of family 2 and family 3 had no obvious abnormality at present, but according to genetic diagnosis and walking dealy, they were considered to be USH1. Conclusions: MYO7A is the most common caustive gene associated with USH1 in Henan deafness patients, the application of next-generation sequencing technology can make USH1 patients diagnosed earlier before the visual symptoms appear.
China/epidemiology* ; DNA Mutational Analysis ; Deafness/genetics* ; Humans ; Mutation ; Myosin VIIa ; Myosins/genetics* ; Pedigree ; Usher Syndromes/genetics*

192 children with sensorineural deafness were included in this study. The most of children were diagnosed late with ages over 24 months (92%). Only 18% of children were discovered early and instantly examined in otorhinolarygologic facilities, while 72% of children were treated when they were at school ages. Among 99% of children with severe deafness, 68% had deafness due to flare-up of the fire of the liver and gall bladder and 32% of cases with deafness due to insufficiency of the Yin or the liver and kidney. Congenital deafness only accounted for 8% of cases, while the most of cases with deafness were resulted from preventable causes, out of them 28% of cases with deafness related to pregnancy and childbirth and 20% of cases with deafness related to the administration of aminosids
Deafness ; Child ; Risk Factors

China ; Deafness ; genetics ; Humans

Blast Injuries ; Deafness ; etiology ; Humans

Deafness ; rehabilitation ; Hearing Aids ; Humans

1. Audiometiric examination for 14 cases of retinal pigmentary degeneration revealed a case of conductive deafness, and 4 cases of perceptive hearing disturbances. 2. There were no complaints of subjective hearing disturbances among the cases of perceptive hearing impairments. 3. All the cases of perceptive hearing loss were thought to be due to cochlear lesion according to tone decay tests. 4. There were no cases accompanied by systemic or neuropsychiatric disorders among the 14 cases of retinal pegmentary degeneration. 5. It has been emphasized that pigmentery degeneration of the retina is frequently associated with perceptive hearing disturbances. Genetical and etiological discussions were tried for this association.
Deafness ; Hearing Loss ; Hearing* ; Retina* ; Retinaldehyde