Management of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)-A Case Report.

Background and Objectives: This study reports a case of a 62-year-old patient experiencing a significant decline in vision over the past three months. The initial best-corrected visual acuity (BCVA) of 20/20 in both eyes diminished to 20/200 in the right eye (RE) and counting fingers (CF) in the left eye (LE) within this timeframe. The patient was diagnosed with stage 4 ovarian cancer just one month before the significant vision deterioration. Materials and Methods: A thorough ophthalmologic examination revealed a notable progression of cataracts and the presence of subretinal fluid on the posterior pole, accompanied by choroidal thickening. The right eye exhibited multifocal, orange-pigmented, and elevated choroidal lesions, while the left eye's fundus examination was impeded by dense cataracts. Optical coherence tomography (OCT) revealed bilateral choroidal thickening with overlying folds and subretinal fluid, and ultrasound imaging of the choroidal lesions indicated moderate homogenous internal reflectivity. Results: The patient received a diagnosis of BDUMP (bilateral diffuse uveal melanocytic proliferation), a paraneoplastic syndrome marked by simultaneous, bilateral, painless vision loss and the rapid onset of bilateral cataracts with serous retinal detachments. Despite cataract extraction, the expected visual recovery was not achieved (RE: CF; LE: 2/200, respectively). Plasmapheresis showed some success in stabilizing vision loss attributed to serous retinal detachments. Conclusions: BDUMP necessitates addressing the underlying malignancy for effective treatment. Left untreated, it can lead to near blindness within a year. The prognosis remains grim, with an average survival time ranging from 12 to 15.7 months from the time of diagnosis. Considering this case report, it is crucial to establish effective management plans and further investigate potential treatment methods and predictive markers centered around BDUMP. Collaboration between healthcare professionals and researchers is crucial in addressing the complexities of BDUMP, as the timely diagnosis and treatment of the disease remains a top priority.

Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.

Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3). Three disease categories have been recognized, including complete, incomplete, and probable VKH. Each category has different clinical features, varying from neurological and auditory manifestations to ophthalmologic and dermatologic findings (1). Herein, we present a case of chronic complete Vogt-Koyanagi-Harada disease, which started with vitiligo. CASE REPORT A forty-year-old female patient presented to the Department of Ophthalmology with photophobia, dull eye pain, and a gradual decrease in visual acuity over two months. In addition, at clinical examination, vitiligo spots were observed on the patient's hands and the periocular area. The patient's medical history revealed she had vitiligo from a young age. Additionally, she developed generalized epilepsy and headaches in adolescence. The neurologic symptoms had been treated, whereas dermatologic workup and treatment were never performed. It was also found that our patient was of Hispanic heritage, which later helped establish a diagnosis. Ophthalmologic examination revealed eye redness, hypotony, keratic precipitates, anterior chamber cells, and posterior synechiaes. Fundoscopy showed mild vitreous haze, optic disc and macular edema, chorioretinal thickening (also seen on eye ultrasound), and disturbance of retinal pigment epithelium (Figure 1). A standard diagnostic protocol for uveitis was performed. Serology for infectious causes was performed, and IgG for CMV and HSV 1 were positive. Tuberculosis testing was negative. HLA testing showed positive HLA-DR1, HLA B13/18, and HLA DQ-1 antigens. There were no cells in the intraocular fluid, and PCR of the fluid was negative for CMV and HSV 1 and 2. Considering the noninfectious uveitis, a history of neurological and dermatological disorders, and the Hispanic heritage of our patient, the diagnosis of Vogt-Koyanagi-Harada disease was established. Systemic methylprednisone in a 1.5 mg/kg dose was introduced during the first hospitalization. After slow tapering of the corticosteroid therapy, cyclosporine A in a 175 mg/day dose and azathioprine in a 100 mg/day dose were introduced for prolonged therapy. Although signs of eye inflammation were reduced, poor prognostic signs such as hypotony and optic disc edema were persistent. Therefore, the TNF-α inhibitor adalimumab was introduced. After the introduction of adalimumab, the disease was considered stable with no worsening of visual function, but vitiligo spots continued to progress (Figure 2). DISCUSSION Our case presents a chronic stage Vogt-Koyanagi-Harada disease in a person with a Hispanic heritage. VKH is a rare autoimmune disease that involves multiple organ systems, including the eyes, skin, and auditory and neurological systems. In the pathogenesis of the disease, there is an underlying granulomatous inflammation mediated by T-lymphocytes targeting melanocyte-specific antigens (4). Besides the immune response, genetics is an integral part of the etiology of the disease. HLA-DR1 and HLA-DR4 have been associated with VKH disease, specifically in the Hispanic and Asian populations (3,5). Other studies have found that VKH is more common in people of Asian and Hispanic heritage than in Caucasian or African-American individuals (6). In our case report, the Hispanic origin of our patient was essential for the diagnosis of the disease. There are four phases of VKH disease. The prodromal phase lasts a few days to a few weeks and is characterized by extraocular findings such as headache, vertigo, meningismus, and nausea (1). After the prodromal phase, the acute uveitic phase occurs, with sudden onset of blurred vision, conjunctival injection, and photophobia (1,7). Weeks to months after, the convalescent phase occurs, with signs of depigmentation such as vitiligo, poliosis, and vitiligo in the ocular limbal area, called the Sugiura sign. Finally, six to nine months after initial symptoms, the chronic recurrent phase occurs, leading to exacerbations of anterior uveitis (1). Even though most patients develop skin changes in the convalescent phase, our patients experienced skin depigmentation years before ocular involvement. VKH can be complete, incomplete, or probable. Our patient is an example of complete VKH, since she fulfilled all criteria for complete VKH, including 1) no history of penetrating ocular trauma or surgery, 2) no clinical or laboratory evidence of other ocular diseases, 3) bilateral ocular involvement, 4) neurological findings, and 5) integumentary findings (8). Treatment for VKH consists of high-dose systemic corticosteroids, administered orally or through intravenous delivery, followed by slow tapering of oral corticosteroids. Immunosuppressive therapy with cyclosporine and/or azathioprine is considered if the symptoms are persistent or worsening. In case of no improvement, biological agents such as infliximab and adalimumab are included (4).

Pseudovitelliform maculopathy associated with hereditary hemochromatosis.

Background: Hereditary hemochromatosis (HH) is an inherited autosomal recessive iron metabolism disorder resulting from a C282Y mutation in the HFE gene. Mutations in the HFE gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who were treated with erythrocytapheresis or phlebotomy, with no exposure to deferoxamine or any other chelation therapy, and who developed visual symptoms. Case Presentation: Both patients had known diagnoses of HH. Because of visual symptoms, they were referred to the ophthalmology clinic and underwent a retinal exam, multimodal imaging, and electrodiagnostic studies, which revealed structural and functional degeneration of the central macula. Fundus photography, fluorescein angiography, and fundus autofluorescence revealed changes at the level of the retinal pigment epithelium (RPE) in the central macula. In addition, optical coherence tomography revealed subfoveal accumulation of hyperreflective material at and below the RPE. Multifocal electroretinography confirmed a decreased cone response, whereas the full-field electroretinogram was unremarkable. Genetic testing ruled out Best's vitelliform macular dystrophy and the other known hereditary macular dystrophies. The patients had known diagnoses of HH, homozygous C282Y mutations in the HFE gene, and no comorbidities; thus, we presumed that HH led to the observed morphological and functional disorders of the RPE, which in turn caused structural macular changes in both patients. Conclusions: Considering the macular findings and the nature of the patients' primary illness, we believe that the accumulation of iron and photoreceptor metabolic products caused dysfunction in the RPE, which led to morphological and functional changes in the macula. Because the patients were not treated using chelating agents, we attribute the macular changes solely to iron accumulation and oxidative stress caused by the pathophysiological processes of HH. Further studies are needed to identify the plausible molecular or cellular insults underlying pseudovitelliform macular degeneration in patients with HH.

Post-COVID Telogen Effluvium.

Recently, the number of patients with acute telogen effluvium (ATE), among other forms of hair loss, has increased in comparison with previous years. The COVID-19 pandemic, taking place during this period, may be the cause of this phenomenon. The exact mechanisms by which this virus causes hair loss are not entirely understood; still, the most likely cause is an excessive release of proinflammatory cytokines during SARS-CoV-2 infection. This process can trigger the development of telogen effluvium (TE) by damaging hair matrix cells. Additionally, the psychosocial condition of patients recovering from COVID-19 will have deteriorated, contributing to hair loss. Based on data collected until now, post-COVID TE is expected to improve without any treatment. Although there is no specific treatment for post-COVID TE, eliminating psychophysical stress, managing systemic complications, and explaining the course of the condition to the patient will potentially improve and speed up the hair recovery process.