Heather A Stiff1, Christina M Sloan-Heggen2,3, Ashley Ko1,4, Wanda L Pfeifer1, Diana L Kolbe2, Carla J Nishimura2, Kathy L Frees2, Kevin T Booth2, Donghong Wang2, Amy E Weaver2, Hela Azaiez2, John Kamholz5, Richard J H Smith2,3, Arlene V Drack1,6. 1. Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA. 2. Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA. 3. Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA. 4. Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada. 5. Department of Neurology, University of Iowa, Iowa City, Iowa, USA. 6. The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA.
Abstract
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.
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.
Authors: R J Smith; C I Berlin; J F Hejtmancik; B J Keats; W J Kimberling; R A Lewis; C G Möller; M Z Pelias; L Tranebjaerg Journal: Am J Med Genet Date: 1994-03-01
Authors: Xue Z Liu; Simon I Angeli; Kaukab Rajput; Denise Yan; Annelle V Hodges; Adrien Eshraghi; Fred F Telischi; Thomas J Balkany Journal: Int J Pediatr Otorhinolaryngol Date: 2008-04-18 Impact factor: 1.675
Authors: James W B Bainbridge; Manjit S Mehat; Venki Sundaram; Scott J Robbie; Susie E Barker; Caterina Ripamonti; Anastasios Georgiadis; Freya M Mowat; Stuart G Beattie; Peter J Gardner; Kecia L Feathers; Vy A Luong; Suzanne Yzer; Kamaljit Balaggan; Ananth Viswanathan; Thomy J L de Ravel; Ingele Casteels; Graham E Holder; Nick Tyler; Fred W Fitzke; Richard G Weleber; Marko Nardini; Anthony T Moore; Debra A Thompson; Simon M Petersen-Jones; Michel Michaelides; L Ingeborgh van den Born; Andrew Stockman; Alexander J Smith; Gary Rubin; Robin R Ali Journal: N Engl J Med Date: 2015-05-04 Impact factor: 91.245
Authors: Francesco Parmeggiani; Giovanni Sato; Katia De Nadai; Mario R Romano; Andrea Binotto; Ciro Costagliola Journal: Curr Genomics Date: 2011-06 Impact factor: 2.236
Authors: Eric Nisenbaum; Torin P Thielhelm; Aida Nourbakhsh; Denise Yan; Susan H Blanton; Yilai Shu; Karl R Koehler; Aziz El-Amraoui; Zhengyi Chen; Byron L Lam; Xuezhong Liu Journal: Ear Hear Date: 2022 Jan/Feb Impact factor: 3.562