HLA-A29 Negative Birdshot-like Chorioretinopathy Associated with Vitiligo—Case Report

TL;DR

A 54-year-old man with vision loss was diagnosed with birdshot-like chorioretinopathy, a rare eye condition, and showed improvement with corticosteroid and immunosuppressive treatment.

Contribution

This case report highlights a rare instance of birdshot-like chorioretinopathy in an HLA-A29 negative patient.

Findings

The patient exhibited symptoms consistent with birdshot-like chorioretinopathy despite being HLA-A29 negative.

Treatment with corticosteroids and mycophenolate mofetil led to clinical improvement.

The disease followed a chronic pattern with remissions and exacerbations.

Abstract

A 54-year-old, one-eyed Caucasian male was admitted to the Ophthalmology Clinic due to a gradual deterioration of vision in the right eye for approximately two weeks. The patient denied any trauma or viral infection during this time. On the day of admission, the patient’s best corrected visual acuity (BCVA) in the right eye was 0.5 on the Snellen scale. The patient’s left eye had been atrophied for several years, with no light perception and no visibility of the fundus due to previous trauma and multiple surgeries. Ophthalmologic examination of the anterior segment and vitreous body of both eyes showed no signs of inflammation. Fundus examination of the right eye revealed scattered inflammatory foci, creamy-yellow and round, visible in all sectors. Laboratory tests, imaging studies, optical coherence tomography (OCT) angiographies, OCTs of the macula and optic nerve head, fluorescein angiographies (FAs), electroretinograms (ERGs), and visual field tests were performed. These examinations led to a diagnosis of a disease resembling birdshot-like chorioretinopathy. Immunogenetic testing of the patient did not reveal the presence of human leukocyte antigen (HLA)-A29. Dermatological and immunological consultations were conducted, and a differential diagnosis was made. Due to the reduced visual acuity (VA) observed and the inability to assess the left eye, a high-dose corticosteroid therapy was initiated, which was gradually tapered, along with the application of an immunosuppressive drug. The course of the disease was typical for birdshot chorioretinopathy, with chronic periods of remissions and exacerbations. The patient’s clinical improvement was only achieved after co-administration of general corticosteroids at a dose of 0.5–1 mg/kg/day, mycofenolate mofetil, and periocular (sub-Tenon’s) triamcinolone.

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