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Maxwell Wingelaar, Laura Kopplin, Dara D Koozekanani, Karen Armbrust, Kimberly E Stepien; Familial Birdshot Chorioretinopathy: Highly variable clinical courses despite first degree relationships. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2085.
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Birdshot Chorioretinopathy (BSCR) is a bilateral posterior uveitis with a strong association with the HLA-A29 haplotype that usually requires systemic therapy in order to control and prevent visual decline. Although very rare, familial associations with BSCR do exist. Little is known if patients with familial BSCR have similar disease courses. Here we review two families with BSCR to explore if disease course and treatment responses in family members with BSCR are similar and could be predictive of outcomes going forward.
Two families with parent and offspring (Father/Son, Mother/Daughter) affected by HLA-A29 associated BSCR were identified. All were diagnosed and followed by retina and/or uveitis specialists. Clinical charts were reviewed for ocular history, clinical exam findings, imaging, treatment therapies and outcomes.
Despite familial associations, age of diagnosis varied among family members (range 37-70 years). Parents were diagnosed at an older age than offspring. There was significant variation in both treatment courses and treatments that resulted in stability among family members (Table A). In family A, both members required advancement beyond antimetabolite therapy to control their BSCR, and the offspring had a significantly worse disease course. In family B, only the offspring required treatment beyond antimetabolites. In all cases, BSCR was controlled with immunosuppression with good visual outcomes.
Familial BSCR does exist. BSCR should be considered in uveitic patients with a known family member with BSCR. Despite being first degree relatives, treatment course and response varied significantly for each individual.
This is a 2020 ARVO Annual Meeting abstract.
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