Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet 2020 Apr;41(2):151-158
Date
04/14/2020Pubmed ID
32281467Pubmed Central ID
PMC7489297DOI
10.1080/13816810.2020.1747088Scopus ID
2-s2.0-85083620481 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness documented. The purpose of this study was to analyze the work-up and ultimate diagnoses of 21 consecutive families who presented to the Genetic Eye-Ear Clinic (GEEC) at the University of Iowa. Our hypothesis was that most families referred to the GEEC would have initial and final diagnoses of Usher syndrome.Materials and Methods: Patients were identified through an IRB approved retrospective chart review of referrals to the GEEC between 2012 and 2019. Details about each patient's history, exam, and clinical and genetic work-up were recorded.Results: From 2012 to 2019, 21 families (25 patients) were referred to the collaborative GEEC. Overall molecular diagnostic rate in this cohort was 14/21 (67%). Evaluation resulted in a change of diagnosis in 11/21 (52%) families. Ultimately, there were eleven unique diagnoses including hereditary, non-hereditary, and independent causes of combined visual impairment and hearing loss. The most common diagnosis was Usher syndrome, which represented 6/21 (29%) families.Conclusions: Providing a correct diagnosis for patients with visual impairment and hearing loss can be challenging for clinicians and their patients, but it can greatly improve clinical care and outcomes. We recommend an algorithm that includes multidisciplinary collaboration, careful clinical evaluation, strategic molecular testing, and consideration of a broad differential diagnosis.
Author List
Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AVAuthor
Heather Stiff MD Assistant Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Blindness
Child
Child, Preschool
Deafness
Diagnosis, Differential
Female
Follow-Up Studies
Genetic Markers
Genetic Predisposition to Disease
Genotype
Humans
Infant
Male
Middle Aged
Mutation
Prognosis
Retrospective Studies
Usher Syndromes
