Literature DB >> 27503085

[Extensive yellowish fundus changes in a 6-year-old child].

S Gottwalt1, A Bergmann2, M Kautza-Lucht2, J B Roider3, F Treumer3.   

Abstract

We describe a 6-year-old, symptom-free girl presenting with a best corrected visual acuity of 0.6 on both eyes. Clinically we found yellowish subretinal lesions in the macula and around the vessel arcade without signs of vasculitis or abnormal vessels in the angiography. Fundus autofluorescence was marked and SD-OCT showed subretinal hyperreflective masses. With the help of molecular genetics we could make the diagnosis of an autosomal recessive bestrophinopathy (ARB). The natural history over 22 months revealed a slight recovery of the visual acuity as well as a slight reduction of the subretinal deposits.

Entities:  

Keywords:  Autosomal recessive bestrophinopathy (ARB); BEST1; Intraretinal cysts; Molecular genetics; Yellowish subretinal deposits

Mesh：

Substances：

Year:  2017        PMID： 27503085     DOI： 10.1007/s00347-016-0336-3

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN： 0941-293X            Impact factor:   1.059


  8 in total

Review 1.  Bestrophins and retinopathies.

Authors:  Qinghuan Xiao; H Criss Hartzell; Kuai Yu
Journal:  Pflugers Arch       Date:  2010-03-28       Impact factor: 3.657

2.  Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy.

Authors:  Veronika Vaclavik; Kenneth G-J Ooi; Alan C Bird; Anthony G Robson; Graham E Holder; Andrew R Webster
Journal:  Arch Ophthalmol       Date:  2007-02

3.  Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Authors:  Camiel J F Boon; L Ingeborgh van den Born; Linda Visser; Jan E E Keunen; Arthur A B Bergen; Judith C Booij; Frans C Riemslag; Ralph J Florijn; Mary J van Schooneveld
Journal:  Ophthalmology       Date:  2013-01-03       Impact factor: 12.079

4.  Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells.

Authors:  Rita Rosenthal; Benjamin Bakall; Tyson Kinnick; Neal Peachey; Sönke Wimmers; Claes Wadelius; Alan Marmorstein; Olaf Strauss
Journal:  FASEB J       Date:  2005-11-10       Impact factor: 5.191

5.  Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.

Authors:  Alessandro Iannaccone; Natalie C Kerr; Tyson R Kinnick; Jorge I Calzada; Edwin M Stone
Journal:  Arch Ophthalmol       Date:  2011-02

6.  [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].

Authors:  M N Preising; C Pasquay; C Friedburg; W Bowl; M Jäger; M Andrassi-Darida; B Lorenz
Journal:  Klin Monbl Augenheilkd       Date:  2012-10-24       Impact factor: 0.700

Review 7.  The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Authors:  Camiel J F Boon; B Jeroen Klevering; Bart P Leroy; Carel B Hoyng; Jan E E Keunen; Anneke I den Hollander
Journal:  Prog Retin Eye Res       Date:  2009-04-16       Impact factor: 21.198

8.  Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Authors:  Rosemary Burgess; Ian D Millar; Bart P Leroy; Jill E Urquhart; Ian M Fearon; Elfrida De Baere; Peter D Brown; Anthony G Robson; Genevieve A Wright; Philippe Kestelyn; Graham E Holder; Andrew R Webster; Forbes D C Manson; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.