THE BELGIAN OPHTHALMIC ASSOCIATIONS
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| Titel | Phenotype of RDH12-related Early-Onset Retinal Dystrophy |
| Doel | To describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations. |
| Methodes | Twenty-eight affected individuals from nineteen 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. |
| Resultaten | All twenty-eight 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. |
| Conclusie | 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. |
Auteur 1
| Naam | DE ZAEYTIJD |
| Initialen | J |
| Instituut | Ghent University Hospital |
| Stad | Ghent |
Auteur 2
| Naam | Visser |
| Initialen | L |
| Instituut | Rotterdam Eye Hospital |
| Stad | Rotterdam |
Auteur 3
| Naam | Coppieters |
| Initialen | F |
| Instituut | Ctr for Medical Genetics |
| Stad | Ghent |
Auteur 4
| Naam | Munier |
| Initialen | FL |
| Instituut | Univ of Lausanne & Jules Gonin Eye Hosp |
| Stad | Lausanne |
Auteur 5
| Naam | Walraedt |
| Initialen | S |
| Instituut | Ghent Univ Hosp |
| Stad | Ghent |
Auteur 6
| Naam | Casteels |
| Initialen | I |
| Instituut | Leuven Univ Hosp |
| Stad | Leuven |
Auteur 7
| Naam | de Ravel |
| Initialen | T |
| Instituut | Ctr for Human Genetics |
| Stad | Leuven |
Auteur 8
| Naam | Collin |
| Initialen | R |
| Instituut | Radboud Univ Med Ctr |
| Stad | Nijmegen |
Auteur 9
| Naam | De Baere |
| Initialen | E |
| Instituut | Ctr for Med Genetics |
| Stad | Ghent |
Auteur 10
| Naam | Hamel |
| Initialen | C |
| Instituut | CHU Hôpital Gui de Chaulia & 12INSERM U 583 |
| Stad | Montpellier |
Auteur 11
| Naam | Van Den Born |
| Initialen | LI |
| Instituut | Rotterdam Eye Hosp |
| Stad | Rotterdam |
Auteur 12
| Naam | Leroy |
| Initialen | BP |
| Instituut | Ctr for Med Genetics & Dept of Ophth |
| Stad | Ghent |