Conjunctival herpetic ulcer in an immunosuppressed patient with birdshot chorioretinopathy

Introduction: Herpes Simplex Virus (HSV) is a human herpesvirus responsible for systemic infections. Ocular involvement spans all ocular tissues. Corneal lesions, such as dendritic or geographic ulcers, are frequently found in HSV keratitis while conjunctival lesions have been described as infrequent. Clinical case: A 62-year-old man diagnosed with Birdshot chorioretinopathy presented a stye in his eyelid that was treated with oxytetracycline-hydrocortisone ointment. One week later he returned presenting several small dendritic corneal ulcers in both eyes and a conjunctival ulcer in one of them. All lesions healed completely after treatment with topical acyclovir ophthalmic ointment at 3%. Conclusions: We should pay attention to the conjunctiva and not merely focus on the cornea when examining patients with herpetic eye disease, especially if being treated with inmunosupressors.

ERAP1, ERAP2, and two copies of HLA-Aw19 alleles increase the risk for Birdshot Chorioretinopathy in HLA-A29 carriers

Purpose: Birdshot Chorioretinopathy (BSCR) is strongly associated with HLA-A29. This study was designed to elucidate the genetic modifiers of BSCR in HLA-A29 carriers. Methods: We sequenced the largest BSCR cohort to date, including 286 cases and 108 HLA-A29 positive controls to perform genome wide common and rare variant associations. We further typed the HLA alleles of cases and 45,386 HLA-A29 controls of European ancestry to identify HLA alleles that associate with BSCR risk. Results: Carrying a second allele that belongs to the HLA-Aw19 broad antigen family (including HLA-A29, A30, A31, and A33) increases the risk for BSCR (OR=4.44, p=2.2e-03). This result was validated by comparing allele frequencies to large HLA-A29-controlled cohorts (n=45,386, OR>2.5, p<1.3e-06). We also confirm that ERAP1 and ERAP2 haplotypes modulate the risk for disease within our HLA-A29 controlled cohort. A meta-analysis with an independent dataset confirmed that ERAP1 and ERAP2 haplotypes modulate the risk for disease at a genome-wide significant level: ERAP1-rs27432 (OR 2.46; 95% CI 1.85-3.26; p=4.07e-10), an eQTL decreasing ERAP1 expression, and ERAP2-rs10044354 (OR 1.95; 95% CI 1.55-2.44; p=6.2e-09), an eQTL increasing ERAP2 expression. Furthermore, ERAP2-rs2248374 that disrupts ERAP2 expression is protective (OR 0.56; 95% CI [0.45-0.70]; p=2.39e-07). BSCR risk is additively increased when combining ERAP1/ERAP2 risk genotypes with two copies of HLA-Aw19 alleles (OR 13.53; 95% CI 3.79-54.77, p=1.17e-05). Conclusions: The genetic factors increasing BSCR risk demonstrate a pattern of increased processing, as well as increased presentation of ERAP2 specific peptides. This suggests a mechanism in which exceeding a peptide presentation threshold activates the immune response in choroids of A29 carriers.

Bilateral juxtapapillary choroidal neovascularization secondary to Birdshot chorioretinopathy -- case report

Central vision loss, photopsia, floaters and macular edema in a highly myopic patient can easily be misrelated to high myopia complications. However, in atypical cases, detailed examination along with a thorough diagnostic is required to establish the right diagnosis, which is often beyond the limits of the condition originally considered.