Syndromes: Usher's Syndrome

There are some forms of hearing loss that are transmitted genetically. Usually, the auditory system is not the only system affected. Genetically transmitted hearing losses also affect other systems. Usher’s Syndrome is one of the genetically transmitted conditions that affect multiple systems including hearing.

Description:

Usher’s syndrome is also known as Retinitis Pigmentosa with congenital sensorineural deafness. Some of these patients are congenitally deaf and have progressive visual loss caused by Retinitis Pigmentosa. The prevalence of this syndrome among profoundly deaf children may be as great as 10%.

Clinical Findings

Usher’s syndrome effects both the auditory/vestibular and ocular systems. The degree to which each system may be affected varies. The following general findings have been reported.

    • Auditory system: Approximately 90% of the persons have a severe bilateral congenital deafness. Mild to moderate hearing loss may be seen in about 10% of the cases. The loss is generally greater in the high frequencies.
    • Vestibular system: The balance or Vestibular system may also be effected. Testing the Vestibular system using caloric stimulation noted that the responses were generally abnormal. Mild ataxia (difficulty in walking) is often present.
    • Ocular system: A loss of vision is generally noticed by ten years of age. Quite often, it is a form of night blindness first. The vision deteriorates slowly, progressing to blindness in about 40% of the persons by the time they reach fifty years of age. Seventy-five percent (75%) experience blindness when in their 70’s.
    • Mental capabilities: There is no mental retardation in about 25% of the patients.
    • Genetics: Autosomal recessive inheritance.

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