Titre | Punctate inner choroidopathy in monozygotic twins |
Abstract Nr. | 3039 |
But | To report punctate inner choroidopathy (PIC) in monozygotic twins |
Méthodes | Observation of Caucasian monozygotic twin sisters, who presented 2 years apart with PIC |
Résultats | At presentation, the first sister manifested unilateral multiple small yellow-white chorioretinal lesions in the posterior pole, without cellular activity. One month later, the lesions had become bilateral. After initial diagnosis of serpiginous choroiditis she was treated with intravitreal anti-VEGF and steroids, to no effect. Systemic treatment was initiated with tuberculostatics, steroids and cyclosporin with limited therapeutic effect. Ledertrexate was added but in the meantime she developed a subretinal neovascular membrane, refractory to anti-VEGF. After consulting our department an ophthalmological and general work up confirmed the diagnosis of PIC. Tuberculostatics and cyclosporin were stopped and steroids tapered off. Adalimumab was initiated successfully. The twin presented 2 years later with a unilateral neovascular membrane, initially diagnosed as a Fuchs spot. Autofluorescence imaging revealed bilateral small white dots in the retinal midperiphery, without signs of active inflammation, confirming PIC. |
Conclusion | PIC is a recurrent, bilateral, chorioretinal inflammatory disease, usually in young, myopic women. To our knowledge this is the first report of PIC in monozygotic twins. Although the pathogenesis of PIC is still unclear, these cases suggest a possible genetic association |
Conflit d'intérêt | Non |
Nom | PEETERS |
Initiales | D |
Institut | Faculty of Medicine, Ghent University |
Nom | SYS |
Initiales | C |
Institut | Department of Ophthalmology, Ghent University Hospital |
Nom | DE ZAEYTIJD |
Initiales | J |
Institut | Department of Ophthalmology, Ghent University Hospital |
Nom | LEROY |
Initiales | BP |
Institut | Department of Ophthalmology, Center for Medical Genetics, Ghent University Hospital & University |
Nom | DE SCHRYVER |
Initiales | I |
Institut | Department of Ophthalmology, Ghent University Hospital |