Edmund Tsui1,2, Jaskirat S Takhar1,3, Ashlin Joye1, Tessnim R Ahmad4, Nisha R Acharya1,2, John A Gonzales1,2. 1. Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA. 2. Department of Ophthalmology, University of California, San Francisco, CA, USA. 3. School of Medicine, John A. Burns University of Hawaii, Honolulu, Hawaii, USA. 4. School of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Abstract
Purpose: To describe high-resolution DNA typing of HLA-A29 in patients with familial birdshot chorioretinopathy (BSCR). Methods: A retrospective clinical chart review was performed of all patients at the Francis I. Proctor Foundation with BSCR with a documented family history of HLA-A29 positive BSCR. High-resolution HLA-A29 typing was performed for these patients. Results: Two families with familial BSCR were identified. Family 1 consisted of a mother, daughter and maternal aunt with BSCR. All were positive for the HLA-A29*02 allele. Family 2 consisted of two sisters with BSCR who were both positive for the HLA-A29*02 allele.Conclusions: Familial BSCR is rare and we report the high-resolution DNA typing of HLA-A29 in two families with familial BSCR and their associated clinical outcomes, including the first documented case of multigenerational BSCR.
Purpose: To describe high-resolution DNA typing of HLA-A29 in patients with familial birdshot chorioretinopathy (BSCR). Methods: A retrospective clinical chart review was performed of all patients at the Francis I. Proctor Foundation with BSCR with a documented family history of HLA-A29 positive BSCR. High-resolution HLA-A29 typing was performed for these patients. Results: Two families with familial BSCR were identified. Family 1 consisted of a mother, daughter and maternal aunt with BSCR. All were positive for the HLA-A29*02 allele. Family 2 consisted of two sisters with BSCR who were both positive for the HLA-A29*02 allele.Conclusions: Familial BSCR is rare and we report the high-resolution DNA typing of HLA-A29 in two families with familial BSCR and their associated clinical outcomes, including the first documented case of multigenerational BSCR.