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

Learn More →

Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy

Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive... Downloaded from http://journals.lww.com/apjoo by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/02/2020 ORIGINAL CLINICAL STUDY Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy Emily Witsberger, MD, Alan Marmorstein, PhD, and Jose Pulido, MD, MS 2þ Ca -activated anion channel and an inhibitor of intracellular Purpose: Autosomal recessive bestrophinopathy (ARB) is a rare inher- 2þ 3–5 Ca signaling. Mutations affecting BEST1 result in impaired ited retinal dystrophy resulted from mutations in bestrophin-1 (BEST1) phagocytosis of photoreceptor outer segments, leading to aberrant which affect functioning of the retinal pigment epithelium (RPE). Descrip- 5,6 rod and cone function. The best characterized bestrophinopathy tions of disease findings in patients with ARB to date have focused only on is Best vitelliform macular dystrophy (or Best disease). Other macular changes. In this case series, we report previously undescribed mid- variants include adult onset vitelliform macular dystrophy, auto- peripheral retinal changes occurring in 4 patients with ARB. somal dominant vitreoretinochoroidopathy, retinitis pigmentosa Design: Case series. 50 (RP50), and ARB. A recent study conducted by our group had Methods: A single-center, retrospective review of medical records from found that the prevalence of Best disease in the United States is on Mayo Clinic patients with ARB was performed. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The Asia-Pacific Journal of Ophthalmology Wolters Kluwer Health

Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy

Loading next page...
 
/lp/wolters-kluwer-health/diffuse-outer-layer-opacification-a-novel-finding-in-patients-with-9Z7fPjTJbB
Publisher
Wolters Kluwer Health
ISSN
2162-0989
eISSN
2475-5028
DOI
10.1097/APO.0000000000000261
Publisher site
See Article on Publisher Site

Abstract

Downloaded from http://journals.lww.com/apjoo by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/02/2020 ORIGINAL CLINICAL STUDY Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy Emily Witsberger, MD, Alan Marmorstein, PhD, and Jose Pulido, MD, MS 2þ Ca -activated anion channel and an inhibitor of intracellular Purpose: Autosomal recessive bestrophinopathy (ARB) is a rare inher- 2þ 3–5 Ca signaling. Mutations affecting BEST1 result in impaired ited retinal dystrophy resulted from mutations in bestrophin-1 (BEST1) phagocytosis of photoreceptor outer segments, leading to aberrant which affect functioning of the retinal pigment epithelium (RPE). Descrip- 5,6 rod and cone function. The best characterized bestrophinopathy tions of disease findings in patients with ARB to date have focused only on is Best vitelliform macular dystrophy (or Best disease). Other macular changes. In this case series, we report previously undescribed mid- variants include adult onset vitelliform macular dystrophy, auto- peripheral retinal changes occurring in 4 patients with ARB. somal dominant vitreoretinochoroidopathy, retinitis pigmentosa Design: Case series. 50 (RP50), and ARB. A recent study conducted by our group had Methods: A single-center, retrospective review of medical records from found that the prevalence of Best disease in the United States is on Mayo Clinic patients with ARB was performed.

Journal

The Asia-Pacific Journal of OphthalmologyWolters Kluwer Health

Published: Nov 1, 2019

There are no references for this article.