Immune recovery uveitis in Whipple's disease: an unusual ocular presentation.

PURPOSE: To describe an unusual case of Whipple's disease (WD) complicated by uveitis, and subsequent paradoxical worsening after effective antibiotic treatment targeting Tropheryma whipplei (TW). METHODS: Case report. RESULTS: A 53-year-old male presented with bilateral knee arthritis, weight loss, chronic low-grade fever, and cognitive disorders. He was under treatment with tumor necrosis factor α inhibitors (TNFi) for seronegative spondyloarthritis. Given this unusual clinical presentation, further investigations were performed and revealed blood, saliva, stool, synovial fluid and cerebrospinal fluid positivity for TW, confirming the diagnosis of systemic WD. Ophthalmologic examination revealed bilateral posterior uveitis and an aqueous humor sample confirmed the presence of intraocular TW. TNFi were stopped, and the patient was subsequently treated with adequate antibiotics (ceftriaxone, followed by doxycycline and hydroxychloroquine), and subconjunctival corticosteroid injections. After a transient improvement of the ocular symptoms, he presented a recurrence of posterior segment inflammation, leading to repeated PCR testing for TW which were negative. Therefore, paradoxical worsening of the inflammation in the context of immune recovery uveitis (IRU) was thought to be the culprit. The patient was treated with systemic corticosteroid therapy, allowing for rapid improvement of the ocular findings. CONCLUSIONS: This case underlines the possibility of IRU complicating WD. Ophthalmologists, rheumatologists, and internists should be aware of this rare complication, particularly in the context of previous immunosuppressive therapy.

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.

Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.

Choroidal Nodules in Ocular Sarcoidosis.

BACKGROUND AND AIM: Ocular sarcoidosis is present in 30-60% of all sarcoidosis patients. Our purpose is to increase awareness of the various presentations of ocular sarcoidosis. METHODS: Short image-based clinical case report. RESULTS: We report on a case of ocular sarcoidosis presenting with unilateral choroidal nodules in a middle-aged man. Sarcoid uveitis is generally bilateral and rather symmetrical. However, choroidal nodules are an exception to this rule, as they generally arise unilaterally. Choroidal nodules are highly responsive to oral corticosteroids. When left untreated, they may evolve to chorioretinal atrophy and secondary choroidal neovascularization. CONCLUSIONS: Knowledge of this presentation of ocular sarcoidosis can help clinicians optimize treatment outcomes for patients.

Acute exacerbation of chronic central serous chorioretinopathy at the site of a retinal pigment epithelium aperture.

PURPOSE: To describe an atypical case of chronic central serous chorioretinopathy (CSCR) with acute exacerbation consisting of severe exudation at the site of a retinal pigment epithelium (RPE) aperture. METHODS: Case report. RESULTS: A 39-year-old man presented with a recurrence of CSCR in the right eye. Initial evaluation was notable for a RPE aperture overlying a chronic avascular pigment epithelial detachment (PED). He was initially treated with topical dorzolamide and indomethacine. During follow-up, application of topical dermal steroid for a case of athlete's foot led to severe fibrinous exudation originating from the site of the RPE aperture. Half-fluence verteporfin photodynamic therapy (PDT) induced rapid and complete resolution of the retinal findings. CONCLUSION: PDT allowed for excellent resolution of an atypical exudative and fibrinous form of CSCR associated with an RPE aperture.

Subtle Combined Hamartoma of the Retina and Retinal Pigment Epithelium Causing Recurrent Exodeviation.

A 3-year-old girl presented with recurrent exotropia following primary strabismus surgery. Careful fundus examination of the left eye revealed loss of the foveal reflex and presence of a subtle grayish mass with overlying white fluff. Optical coherence tomography through the lesion revealed disorganization of inner and outer retinal layers with accompanying epiretinal gliosis. Together, these findings were suggestive of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). No syndromic association was found. CHRRPE is a rare retinal tumor that usually presents with visual loss, strabismus, or follows an asymptomatic course. Retinal tumors must be kept in mind whenever loss of foveal reflex occurs concurrently with strabismus.