Purchase this article with an account.
Julie De Zaeytijd, Frauke Coppieters, Linda Visser, Sophie Walraedt, Rob W. Collin, Elfride De Baere, Christian P. Hamel, L I. van den Born, Bart P. Leroy; Phenotype of RDH12-related Early-Onset Retinal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2380.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations.
Eleven affected individuals from six families with proven RDH12 mutations underwent a detailed ophthalmological examination including fundus photography using white, autofluorescent, near-infrared and red-free light and optical coherence tomography (OCT). In addition, psychophysical and electrophysiological testing (ISCEV-standard ERG) was performed.
All eleven affected individuals had a history of poor vision from the first few years of life. Fundoscopy showed marked atrophy and yellow discolouration of the macula. Spicular intraretinal pigmentation was present in the (mid)periphery of all fundi. In addition, a remarkable aspect of patchy preservation of functional retina in the retinal periphery was present until relatively late in the disease with additional significant sparing of the peripapillary area in all individuals. OCT confirmed the conservation of the peripapillary retinal structure. ERG revealed very reduced to absent responses under both scotopic and photopic conditions.
The phenotype of RDH12-related EORD includes an early macular atrophy with yellow discolouration, and patchy preservation of peripheral and peripapillary retina as a specific pathognomonic feature.
This PDF is available to Subscribers Only