Presentation type | E-poster |
Title | Birdshot Chorioretinopathy in Monozygotic Twins |
Purpose | Birdshot Chorioretinopathy (BCSR) is genetically predisposed to HLA as the most substantial disease susceptibility region. The unique occurrence of BSCR in monozygotic twins is described. |
Methods | Two monozygotic twin sisters underwent a full ophthalmic and systemic workup. |
Results | A 36-year-old female presented with photopsia in the left eye. Her BCVA was 1.0 in the right and 0.8 in the left eye. Ocular examination showed bilateral disc swelling, moderate vitritis and peripapillary pale choroidal lesions. Fluorescein and ICG angiography confirmed bilateral retinal phlebitis and multiple hypocyanescent lesions around the optic disc. Ff-ERG was normal. Underlying infectious or inflammatory causes were excluded. HLA-A29 positivity guided towards a diagnosis of BSCR. With systemic immunosuppressive treatment, clinical, ff-ERG and ICG stabilization was achieved for the past 5 years. Her monozygotic twin sister was referred at the age of 41 years because of flashes and floaters in the right eye. BCVA was 1.0 in both eyes. The clinical signs at presentation were akin to those of her twin sister. A systemic work-up was unremarkable aside from HLA-A29 positivity. Quiescence was reached with systemic Immunosuppressive treatment. |
Conclusion | HLA-A29 is a well-known risk factor for BSCR. The 5-year-gap in onset in monozygotic twins suggests additional genetic or environmental factors to activate the immune response in HLA-A29 carriers and elicit disease. |
Conflict of interest | No |
Last name | COOLS |
Initials | A |
Department | Department of Ophthalmology, Ghent University Hospital |
City | Ghent, Belgium |
Last name | Almomani |
Initials | R |
Department | Department of Ophthalmology, Ghent University Hospital |
City | Ghent, Belgium |
Last name | de Zaeytijd |
Initials | J |
Department | Department of Ophthalmology, Ghent University Hospital |
City | Ghent, Belgium |
Last name | Sys |
Initials | C |
Department | Department of Ophthalmology, Ghent University Hospital |
City | Ghent, Belgium |
Last name | Kreps |
Initials | E.O. |
Department | Department of Ophthalmology, Ghent University Hospital |
City | Ghent, Belgium |