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1.
Cureus ; 14(12): e32865, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36699774

ABSTRACT

We report a case of cystoid macular edema (CME) secondary to syphilitic uveitis that was successfully treated with pars plana vitrectomy with internal limiting membrane peeling. A 37-year-old male with a history of HIV developed a CME secondary to syphilitic panuveitis. His uveitis resolved following treatment with intravenous penicillin, yet his CME persisted and was refractory to four posterior sub-tenon triamcinolone acetonide injections. A pars plana vitrectomy with internal limiting membrane peeling was performed, resulting in lasting resolution of the CME and the improvement of his visual acuity at the two-month follow-up visit. Pars plana vitrectomy with internal limiting membrane peeling may be a viable alternative for the treatment of CME in patients with syphilitic uveitis. In particular, it may serve as a viable alternative for the treatment of CME in patients with a history of infectious uveitis or other comorbidities, such as HIV infection.

2.
Cureus ; 14(12): e32930, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36699790

ABSTRACT

We report the cases of a father and his daughter, the former diagnosed with retinitis pigmentosa (RP) and the latter with early foveal atrophy; while both shared a novel variant of uncertain significance (VUS) in the ACBD5 gene (variant c.431G>A), they exhibited different clinical profiles and disease manifestations. The father was a 48-year-old man who presented with nyctalopia that had persisted since age seven. He had mild disk pallor, vessel attenuation, retinal pigment epithelium (RPE) changes nasal to the fovea, and few mid-peripheral bone spicules. Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), EYS c.1852G>A (p.Gly618Ser), HMCN1 c.280G>A (p.Val94Met), HMCN1 c.8939A>C (p.Asn2980Thr), RP1L1 c.575C>A (p.Pro192His), and RP1L1 c.1375A>C (p.Thr459Pro). He shared only the ACBD5 gene with his 18-year-old daughter. The daughter had 20/20 visual acuity, but further testing showed foveal atrophy and hyperautofluorescence. Intrafamilial phenotypic heterogeneity was detected in our patients. Studies on the role of hormonal factors leading to phenotypic variability are warranted.

3.
Cureus ; 14(12): e32300, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36628035

ABSTRACT

We report on a case of multiple evanescent white dot syndrome (MEWDS) following the simultaneous administration of the human papillomavirus and meningococcal (conjugate) vaccines and two recurrences of MEWDS following the administration of the second dose of the human papillomavirus (HPV) vaccine and the COVID-19 vaccine and COVID-19 viral infection. A 17-year-old Hispanic female presented with a one-week history of photopsia and blurred vision in her left eye following the simultaneous administration of the human papillomavirus and meningococcal (conjugate) vaccines. Upon a comprehensive examination, her best-corrected visual acuity was 20/20 in the right eye and 20/100 in the left eye. A left fundus examination revealed multiple white dots in the macula and nasal periphery, consistent with a diagnosis of MEWDS. Ancillary testing, including fundus autofluorescence, fluorescein angiography, indocyanine green angiography, and optical coherence tomography, supported the diagnosis. One month following her initial diagnosis, the patient's symptoms had resolved without any therapy, and a fundus examination revealed multiple relatively ill-defined brown-colored subretinal lesions in the nasal midperiphery, corresponding to the location of the previous MEWDS lesions. Subsequently, she received the second dose of the HPV vaccine and then developed a mild COVID-19 infection. Four months after the initial presentation, she received the first dose of the BNT162b2 COVID-19 vaccine, followed by the second dose a month later. Eight months following her initial presentation, she presented with photopsia in the right eye. Her visual acuity remained 20/20 in the right eye and improved to 20/20 in the left eye, and white dots were identified nasal to the disk and surrounding the peripapillary region; the contralateral MEWDS diagnosis was confirmed by the previously mentioned ancillary tests. At her one-month follow-up, she presented new onset photopsia of the right eye. Her visual acuity remained 20/20 in both eyes, and a fundus examination revealed white lesions suggestive of active MEWDS temporal to the macula and brown-colored spots nasal to the disk, suggestive of recovering MEWDS, nasally. The aforementioned testing confirmed the coexistence of new and resolving lesions; nonetheless, the patient's symptoms resolved without any therapy, and she received the third dose of the BNT162b2 COVID-19 vaccine 11 months after her initial presentation. Our case suggests that vaccines may serve as immunological triggers of MEWDS. Recurrent MEWDS may occur when an individual is exposed to a powerful immune challenge, such as receiving a wide array of vaccinations in a short period of time. We believe this case constitutes a previously undescribed finding of multiple relatively ill-defined brown-colored subretinal lesions present in late MEWDS.

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