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- Title
Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.
- Authors
Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi
- Abstract
Two case studies are presented of patients with PHARC which is an autosomal recessive disorder that causes polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. It includes a 64-year-old Japanese male who was aware that he had hearing loss in primary school. It mentions that the patient had experienced night blindness at the age of 30, and diagnosed with retinitis pigmentosa. It adds the 56-year-old Japanese male who was diagnosed of hearing loss at the age of 15.
- Subjects
DEAF-blind disorders; DIFFERENTIAL diagnosis; GENETICS; JAPANESE people; GENETIC mutation; POLYMERASE chain reaction; RESEARCH funding; USHER'S syndrome; DIAGNOSIS
- Publication
Annals of Otology, Rhinology & Laryngology, 2015, Vol 124, p77S
- ISSN
0003-4894
- Publication type
Case Study
- DOI
10.1177/0003489415574513