High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy.

Autor: Tsui E; Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA.; Department of Ophthalmology, University of California, San Francisco, CA, USA., Takhar JS; Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA.; School of Medicine, John A. Burns University of Hawaii, Honolulu, Hawaii, USA., Joye A; Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA., Ahmad TR; School of Medicine, University of California, San Francisco, San Francisco, CA, USA., Acharya NR; Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA.; Department of Ophthalmology, University of California, San Francisco, CA, USA., Gonzales JA; Francis I. Proctor Foundation, University of California, San Francisco, San Francisco, CA, USA.; Department of Ophthalmology, University of California, San Francisco, CA, USA.
Jazyk: angličtina
Zdroj: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2021 Feb 17; Vol. 29 (2), pp. 228-231. Date of Electronic Publication: 2019 Nov 13.
DOI: 10.1080/09273948.2019.1682173
Abstrakt: 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.
Databáze: MEDLINE
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