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Tytuł pozycji:

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

Tytuł:
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Autorzy:
Stiff HA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Sloan-Heggen CM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Ko A; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Pfeifer WL; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Frees KL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Kamholz J; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA.
Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Apr; Vol. 41 (2), pp. 151-158. Date of Electronic Publication: 2020 Apr 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Publication: London : Informa Healthcare
Original Publication: Buren, The Netherlands : Aeolus Press, c1994-
MeSH Terms:
Genetic Markers*
Mutation*
Blindness/*diagnosis
Deafness/*diagnosis
Usher Syndromes/*diagnosis
Adolescent ; Adult ; Blindness/genetics ; Child ; Child, Preschool ; Deafness/genetics ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Usher Syndromes/genetics
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Grant Information:
R01 DC003544 United States DC NIDCD NIH HHS; T32 GM007337 United States GM NIGMS NIH HHS; R01 EY017168 United States EY NEI NIH HHS; R01 DC012049 United States DC NIDCD NIH HHS; R01 DC002842 United States DC NIDCD NIH HHS
Contributed Indexing:
Keywords: Genetic diagnosis; collaborative clinic; hearing loss; usher syndrome; visual impairment
Substance Nomenclature:
0 (Genetic Markers)
Entry Date(s):
Date Created: 20200414 Date Completed: 20210406 Latest Revision: 20240214
Update Code:
20240214
PubMed Central ID:
PMC7489297
DOI:
10.1080/13816810.2020.1747088
PMID:
32281467
Czasopismo naukowe
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.
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