Oman Journal of Ophthalmology

REVIEW ARTICLE
Year
: 2013  |  Volume : 6  |  Issue : 4  |  Page : 18--25

Hereditary retinal eye diseases in childhood and youth affecting the central retina


Martin M Nentwich, Guenther Rudolph 
 Department of Ophthalmology, Ludwig Maximilians-University, Munich, Germany

Correspondence Address:
Martin M Nentwich
Department of Ophthalmology, Ludwig Maximilians University, Mathildenstr 8, 80336 Munich
Germany

Hereditary dystrophies affecting the central retina represent a heterogeneous group of diseases. Mutations in different genes may be responsible for changes of the choroid (choroideremia), of the retinal pigment epithelium [RPE] (Best俟Q製 disease), of the photoreceptor outer segments (Stargardt俟Q製 disease) and of the bipolar and Mueller cells (x-linked retinoschisis). The correct diagnosis of hereditary retinal dystrophies is important, even though therapeutic options are limited at the moment, as every patient should get a diagnosis and be informed about the expected prognosis. Furthermore, specific gene therapy of a number of diseases such as Leber congenital amaurosis, choroideremia, Stargardt俟Q製 disease, Usher Syndrome and achromatopsia is being evaluated at present. Classic examinations for patients suffering from hereditary retinal dystrophies of the central retina are funduscopy - also using red-free light - visual-field tests, electrophysiologic tests as electro-retinogram [ERG] and multifocal ERG and tests evaluating color vision. Recently, new imaging modalities have been introduced into the clinical practice. The significance of these new methods such as high-resolution spectral-domain optic coherence tomography [SD-OCT] and fundus autofluorescence will be discussed as well as 非Q裳ext generation sequencing非Q as a new method for the analysis of genetic mutations in a larger number of patients.


How to cite this article:
Nentwich MM, Rudolph G. Hereditary retinal eye diseases in childhood and youth affecting the central retina.Oman J Ophthalmol 2013;6:18-25


How to cite this URL:
Nentwich MM, Rudolph G. Hereditary retinal eye diseases in childhood and youth affecting the central retina. Oman J Ophthalmol [serial online] 2013 [cited 2020 Apr 7 ];6:18-25
Available from: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2013;volume=6;issue=4;spage=18;epage=25;aulast=Nentwich;type=0