Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Autor:	Carla Nishimura, Amy E. Weaver, Richard J.H. Smith, Ashley S. Ko, Hela Azaiez, Kathy L. Frees, Kevin T. Booth, Heather A. Stiff, Arlene V. Drack, Donghong Wang, John Kamholz, Diana L. Kolbe, Wanda L. Pfeifer, Christina M. Sloan-Heggen
Rok vydání:	2020
Předmět:	Adult Genetic Markers Male 0301 basic medicine medicine.medical_specialty Pediatrics Adolescent Genotype Hearing loss Usher syndrome Visual impairment Deafness 030105 genetics & heredity Blindness Article Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Molecular genetics otorhinolaryngologic diseases Humans Medicine Genetic Predisposition to Disease Medical diagnosis Child Genetics (clinical) Retrospective Studies business.industry Infant Middle Aged Prognosis medicine.disease Ophthalmology Child Preschool Mutation Pediatrics Perinatology and Child Health Cohort 030221 ophthalmology & optometry Etiology Female Differential diagnosis medicine.symptom business Usher Syndromes Follow-Up Studies
Zdroj:	Ophthalmic Genet
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2020.1747088
Popis:	BACKGROUND: Usher syndrome is the most common hereditary syndrome combining deafness and blindness (1, 2). 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 (3). 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.
Databáze:	OpenAIRE
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