Birdshot Chorioretinopathy

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

HLA-A, LNPEP, TECPR2, ERAP2, GEM, KIR3DL1, HLA-C, HLA-DQA1, IFNG, IL17A, KIR2DL2, POU2F1, SLC22A1, ERAP1, KIR2DS2

Drugs

3-{[2,3,5,6-tetrafluoro-3'-(trifluoromethoxy)biphenyl-4-yl]carbamoyl}thiophene-2-carboxylic acid, 4-((E)-(5-(2-(2-((S)-2-((S)-1-(L-threonyl-L-lysyl)pyrrolidine-2-carboxamido)-5-guanidinopentanamido)acetamido)-2-carboxyethyl)-2-hydroxyphenyl)diazenyl)phenyl (2-(trimethylammonio)ethyl) phosphate, Adalimumab ( CYLTEZO, AMGEVITA, AMSPARITY, HALIMATOZ, HEFIYA, HULIO, HUMIRA, HYRIMOZ, KROMEYA, IDACIO, IMRALDI ), Autologous collagen type II-specific regulatory T cells, Cyclo {{(E,Z)-(2S,3R,4R)-3-hydroxy-4-methyl-2-(methylamino)nona-6,8-dienoyl}-L-2-aminobutyryl-N-methyl-glycyl-N-methyl-L-leucyl-L-valyl-N-methyl-L-leucyl-L-alanyl-Dalanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl}, Dexamethasone (intravitreal implant) ( OZURDEX ), Fluocinolone ( RETISERT ), Fluocinolone acetonide (prolonged-release intravitreal implant), Gevokizumab, HLA-B27 derived peptide (amino acid 125-138), Voclosporin

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Clinical Features

Birdshot chorioretinopathy (BSCR) is characterized by multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc and radiating toward the equator. These depigmented spots, the most distinctive sign of the syndrome, appear at the level of the retinal pigment epithelium but, on occasion, suggest an even deeper infiltration. The retinal vasculopathy and inflammatory signs associated with the funduscopic findings lead regularly to visual loss. Szpak et al. (2001) noted that the human MHC class I specificity HLA-A29 (see 142800) had been observed in nearly all patients (95.8%) with BSCR compared with 7% in healthy controls.

Animal Model

In an attempt to develop an animal model of HLA-A29-associated disease, Szpak et al. (2001) produced transgenic mice expressing HLA-A29 molecules. They found that an eye disorder spontaneously arising in these transgenic mice included many of the features of HLA-A29-associated BSCR in humans.