THE BELGIAN OPHTHALMIC ASSOCIATIONS
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This abstract is assigned to session Poster session in O'Bistro
| Title | Phenotype of RDH12-related Early-Onset Retinal Dystrophy |
| Purpose | To describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations. |
| Methods | 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. |
| Results | 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. |
| Conclusion | 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. |
Author 1
| Last name | DE ZAEYTIJD |
| Initials | J |
| Department | Ghent University Hospital |
| City | Ghent |
Author 2
| Last name | Visser |
| Initials | L |
| Department | Rotterdam Eye Hospital |
| City | Rotterdam |
Author 3
| Last name | Coppieters |
| Initials | F |
| Department | Ctr for Medical Genetics |
| City | Ghent |
Author 4
| Last name | Munier |
| Initials | FL |
| Department | Univ of Lausanne & Jules Gonin Eye Hosp |
| City | Lausanne |
Author 5
| Last name | Walraedt |
| Initials | S |
| Department | Ghent Univ Hosp |
| City | Ghent |
Author 6
| Last name | Casteels |
| Initials | I |
| Department | Leuven Univ Hosp |
| City | Leuven |
Author 7
| Last name | de Ravel |
| Initials | T |
| Department | Ctr for Human Genetics |
| City | Leuven |
Author 8
| Last name | Collin |
| Initials | R |
| Department | Radboud Univ Med Ctr |
| City | Nijmegen |
Author 9
| Last name | De Baere |
| Initials | E |
| Department | Ctr for Med Genetics |
| City | Ghent |
Author 10
| Last name | Hamel |
| Initials | C |
| Department | CHU Hôpital Gui de Chaulia & 12INSERM U 583 |
| City | Montpellier |
Author 11
| Last name | Van Den Born |
| Initials | LI |
| Department | Rotterdam Eye Hosp |
| City | Rotterdam |
Author 12
| Last name | Leroy |
| Initials | BP |
| Department | Ctr for Med Genetics & Dept of Ophth |
| City | Ghent |