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| Disease found: | Usher Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare genetic disorder resulting in sensorineural hearing loss and retinitis pigmentosa. Autosomal recessive inheritance pattern. Type 1 associated with mutations in MYO7A (USH1B), USH1C, CDH23, PCDH15 (USH1F), and SANS (USH1G). Type 2 associated with mutations in USH2A, ADGRV1 (previously called VLGR1 and GPR98) and WHRN (DFNB31). Type 3 associated with mutations in USH3A (CLRN1). [more info] |
| Signs and Symptoms: | Sensorineural hearing loss, retinitis pigmentosa, retinal degeneration, night blindness, tunnel vision. Based on type, patients can have onset of symptoms anytime between birth and later in life. Can affect vestibular function. |
| Diagnosis: | Thorough hearing, balance, and vision exams. Electroretinogram assesses electrical response to light in the retina of the eyes. Genetic testing is available through the Usher Syndrome Coalition. |
| Treatment: | Symptom-specific. Assess severity of hearing and vision loss to provide alternative communication methods. Vitamin A supplementation may prevent retinal degeneration. |
| Clinical Management: | Pediatricians, internists, otolaryngologists, opthamologists, and audiologists provide individualized care based on an individual's presentation. Genetic counseling for patients and their families. |
| Referral: | Researchers, disease experts, and genetic testing resources can be found here.. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | The USH Trust connects individuals and their families to clinical trials and research. Clinical trials are currently recruiting here. |