A member asked:

Can anyone tell me what usher syndrome type 2a is?

7 doctors weighed in across 4 answers
Dr. Phil Zapanta answered

Specializes in ENT and Head and Neck Surgery

Congential syndrome: It is a syndrome commonly associated with sensorineural hearing loss and retinitis pigementosa. It can account for up to 50% of patients with both deafness and blindness. There are 3 types of usher syndromes (1b, 2a, 3) and each has a specific but related genetic mutation. Usher type 2a (ush2a) is the most common mutation.

Answered 7/8/2012


Dr. Gutti Rao answered

Specializes in Hospital-based practice

Deafness blindness: Usher syndrome 2a has hard of hearing than deafness. It does not worsen overtime. Also there is no associated balance problems as vestibular apparatus is intact. It is autosomal recessive due to mutations of genes.

Answered 9/6/2019


Dr. Ronald Holzman answered

Specializes in Mammography, Breast Ultrasound

Per the NIH:: Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. (See nih.gov for more).

Answered 5/25/2014


Dr. Jon Fishburn answered

Specializes in Ophthalmology

Vision/hearing loss: Ushers syndrome is an autosomal recessive inherited disease that involves various degrees of vision loss in the form of retinitis pigmentosa & varying degrees of hearing/balance loss. Type 1 has profound hearing/balance loss at birth, type 2 has moderate to severe hearing/balance loss at birth,& type 3 normal hearing/balance at birth but progresses in later childhood/teens.

Answered 1/4/2016



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