Literature DB >> 28941524

Juvenile Macular Degenerations.

Pablo Altschwager1, Lucia Ambrosio2, Emily A Swanson3, Anne Moskowitz2, Anne B Fulton2.   

Abstract

In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing. Early diagnosis promotes optimal management. Although there is currently no definitive cure for these conditions, therapeutic modalities under investigation include pharmacologic treatment, gene therapy, and stem cell transplantation.
Copyright © 2017 Elsevier Inc. All rights reserved.

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Year:  2017        PMID: 28941524      PMCID: PMC5709045          DOI: 10.1016/j.spen.2017.05.005

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  79 in total

1.  Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.

Authors:  Markus N Preising; Michaela Abura; Melanie Jäger; Klaus-Heiko Wassill; Birgit Lorenz
Journal:  Ophthalmic Genet       Date:  2016-08-02       Impact factor: 1.803

2.  The effect of light deprivation in patients with Stargardt disease.

Authors:  Michel M Teussink; Michele D Lee; R Theodore Smith; Ramon A C van Huet; Caroline C Klaver; B Jeroen Klevering; Thomas Theelen; Carel B Hoyng
Journal:  Am J Ophthalmol       Date:  2015-02-11       Impact factor: 5.258

3.  Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.

Authors:  G Karan; C Lillo; Z Yang; D J Cameron; K G Locke; Y Zhao; S Thirumalaichary; C Li; D G Birch; H R Vollmer-Snarr; D S Williams; K Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2005-03-04       Impact factor: 11.205

4.  The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Authors:  Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Mohammad Ismail; Annette M Payne; Graham E Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
Journal:  Arch Ophthalmol       Date:  2004-07

Review 5.  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

6.  Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

Authors:  Christina Gerth; Robert J Zawadzki; John S Werner; Elise Héon
Journal:  Arch Ophthalmol       Date:  2008-06

7.  Optical coherence tomography retinal thickness and volume measurements in X-linked retinoschisis.

Authors:  Michael T Andreoli; Jennifer I Lim
Journal:  Am J Ophthalmol       Date:  2014-05-28       Impact factor: 5.258

8.  Colour Vision in Stargardt Disease.

Authors:  Tine Vandenbroucke; Ronald Buyl; Julie De Zaeytijd; Miriam Bauwens; André Uvijls; Elfride De Baere; Bart P Leroy
Journal:  Ophthalmic Res       Date:  2015-10-23       Impact factor: 2.892

9.  Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.

Authors:  Brett G Jeffrey; Catherine A Cukras; Susan Vitale; Amy Turriff; Kristin Bowles; Paul A Sieving
Journal:  Transl Vis Sci Technol       Date:  2014-10-03       Impact factor: 3.283

10.  Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.

Authors:  Thomas Rosenberg; Ben Roos; Thorkild Johnsen; Niels Bech; Todd E Scheetz; Michael Larsen; Edwin M Stone; John H Fingert
Journal:  Mol Vis       Date:  2010-12-09       Impact factor: 2.367

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  6 in total

Review 1.  Cerebral Modifications and Visual Pathway Reorganization in Maculopathy: A Systematic Review.

Authors:  Raffaele Nuzzi; Laura Dallorto; Alessio Vitale
Journal:  Front Neurosci       Date:  2020-08-21       Impact factor: 4.677

2.  Measurement of macular thickness with optical coherence tomography: impact of using a paediatric reference database and analysis of interocular symmetry.

Authors:  Alicia Muñoz-Gallego; José L Torres-Peña; Martín Rodríguez-Salgado; Ana Ortueta-Olartecoechea; Cristina López-López; Javier De la Cruz; Pilar Tejada-Palacios
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-08-29       Impact factor: 3.117

Review 3.  Eye Movements in Macular Degeneration.

Authors:  Preeti Verghese; Cécile Vullings; Natela Shanidze
Journal:  Annu Rev Vis Sci       Date:  2021-05-26       Impact factor: 7.745

4.  The Potential Role of Epigenetic Mechanisms in the Development of Retinitis Pigmentosa and Related Photoreceptor Dystrophies.

Authors:  Galina Dvoriantchikova; Karin Rose Lypka; Dmitry Ivanov
Journal:  Front Genet       Date:  2022-03-11       Impact factor: 4.599

5.  The Retina: A Window into the Brain.

Authors:  Maurice Ptito; Maxime Bleau; Joseph Bouskila
Journal:  Cells       Date:  2021-11-23       Impact factor: 6.600

Review 6.  Behavioural Adaptation to Hereditary Macular Dystrophy: A Systematic Review on the Effect of Early Onset Central Field Loss on Peripheral Visual Abilities.

Authors:  Aishah Baig; David Buckley; Charlotte Codina
Journal:  Br Ir Orthopt J       Date:  2021-06-16
  6 in total

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