Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Caring for Hereditary Childhood Retinal Blindness

Caring for Hereditary Childhood Retinal Blindness Downloaded from http://journals.lww.com/apjoo by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/02/2020 REVIEW ARTICLE Ruben Jauregui, BS,*†‡ Galaxy Y. Cho, MS,*†§ Vitor K.L. Takahashi, MD,*†¶ Julia T. Takiuti, MD,*†∥ Alexander G. Bassuk, MD, PhD,** Vinit B. Mahajan, MD, PhD,††‡‡ and Stephen H. Tsang, MD, PhD*§§ the British Childhood Visual Impairment Study found that 24% Abstract: Inherited retinal diseases (IRDs) are a major cause of incur- 3 of childhood visual impairments were due to retinal problems. able familial blindness in the Western world. In the pediatric population, Furthermore, though these dystrophies may present in isolation or IRDs are a major contributor to the 19 million children worldwide with as part of a systemic syndrome, the retinal disorders often are the visual impairment. Unfortunately, the road to the correct diagnosis is of- 4 first presenting features of a systemic disorder. Additionally, syn- ten complicated in the pediatric population, as typical diagnostic tools dromic retinal dystrophies account for approximately 20‒30% of such as fundus examination, electrodiagnostic studies, and other imaging 5 all retinal dystrophies. Thus, identification and correct diagnosis modalities may be difficult to perform in the pediatric patient. In this of retinal disorders are crucial for proper treatment. review, we describe the most significant IRDs with http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The Asia-Pacific Journal of Ophthalmology Wolters Kluwer Health

Caring for Hereditary Childhood Retinal Blindness

Download PDF
9 pages

Loading next page...
 
/lp/wolters-kluwer-health/caring-for-hereditary-childhood-retinal-blindness-Bz55CayBti

References

References for this paper are not available at this time. We will be adding them shortly, thank you for your patience.

Publisher
Wolters Kluwer Health
ISSN
2162-0989
eISSN
2475-5028
DOI
10.22608/APO.201851
Publisher site
See Article on Publisher Site

Abstract

Downloaded from http://journals.lww.com/apjoo by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/02/2020 REVIEW ARTICLE Ruben Jauregui, BS,*†‡ Galaxy Y. Cho, MS,*†§ Vitor K.L. Takahashi, MD,*†¶ Julia T. Takiuti, MD,*†∥ Alexander G. Bassuk, MD, PhD,** Vinit B. Mahajan, MD, PhD,††‡‡ and Stephen H. Tsang, MD, PhD*§§ the British Childhood Visual Impairment Study found that 24% Abstract: Inherited retinal diseases (IRDs) are a major cause of incur- 3 of childhood visual impairments were due to retinal problems. able familial blindness in the Western world. In the pediatric population, Furthermore, though these dystrophies may present in isolation or IRDs are a major contributor to the 19 million children worldwide with as part of a systemic syndrome, the retinal disorders often are the visual impairment. Unfortunately, the road to the correct diagnosis is of- 4 first presenting features of a systemic disorder. Additionally, syn- ten complicated in the pediatric population, as typical diagnostic tools dromic retinal dystrophies account for approximately 20‒30% of such as fundus examination, electrodiagnostic studies, and other imaging 5 all retinal dystrophies. Thus, identification and correct diagnosis modalities may be difficult to perform in the pediatric patient. In this of retinal disorders are crucial for proper treatment. review, we describe the most significant IRDs with

Journal

The Asia-Pacific Journal of Ophthalmology – Wolters Kluwer Health

Published: May 1, 2018

References

  • Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
    den Hollander
  • Epidemiology, aetiology and management of visual impairment in children
    AL
  • Severe visual impairment and blindness in children in the UK
    Rahi
  • Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK
    Hamblion
  • Practical approach to syndromic pediatric retinal dystrophies
    Sadagopan
  • Epidemiology of blindness in children
    Solebo
  • Use of the electroretinogram in a paediatric hospital
    Camuglia
  • Nonsedated handheld electroretinogram as a screening test of retinal dysfunction in pediatric patients with nystagmus
    Grace
  • Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa
    Acton
  • Phenotyping choroideremia and its carrier state with multimodal imaging techniques.
    Ma
  • A novel RPGR mutation masquerading as Stargardt disease
    Bassuk
  • Outer retinal circular structures in patients with Bietti crystalline retinopathy
    Kojima
  • Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies
    Lee
  • Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
    Consugar
  • Panel-based clinical genetic testing in 85 children with inherited retinal disease
    Taylor