Tocilizumab for cystoid macular edema secondary to retinitis pigmentosa.

PURPOSE: To describe the effect of tocilizumab (TCZ) on cystoid macular edema (CME) and retinal vascular leakage (RVL) in retinitis pigmentosa (RP). METHODS: Retrospective case series. RESULTS: We present 2 cases of RP with marked inflammatory features in the form of CME and RVL. There was initial diagnostic uncertainty with posterior uveitis. Both patients were treated with corticosteroids, conventional disease-modifying antirheumatic drugs (cDMARDs), and biological DMARDs (bDMARDs) for the inflammatory features with partial and inconsistent treatment response. When treatment was switched to intravenous (IV) TCZ, dramatic reduction in CME and RVL were observed in both patients. Diagnosis of RP was eventually made based on findings of ancillary tests (macular spectral-domain optical coherence tomography, visual fields, full-field electroretinogram). Genetic testing led to a molecular diagnosis of EYS-related autosomal recessive RP in patient 1, while patient 2 had negative gene panel results. CONCLUSIONS: IV TCZ can be an effective treatment option in RP-related CME and RVL. Whether this treatment strategy has an effect on prognosis remains to be established, but it is possible considering chronic CME-related retinal damage is a major driver of central vision loss in RP.

DIAGNOSTIC YIELD OF AN INHERITED RETINAL DISEASE GENE PANEL IN RETINOPATHY OF UNKNOWN ORIGIN.

PURPOSE: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO). METHODS: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient. Four RUO categories were defined: nonparaneoplastic autoimmune retinopathy, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy. RESULTS: The authors included 12 patients (9 females) across these four RUO categories. Mean age at inclusion was 45.6 years (20-68 years). Seven patients demonstrated class 3 variants in IRD genes. Of these, two also demonstrated class 5 variants in other IRD genes. The remaining five patients had negative panel results. IRD gene panel analysis allowed diagnosis refinement in 1 (8.3%) nonparaneoplastic autoimmune retinopathy patient in the RUO cohort. When considering the nonparaneoplastic autoimmune retinopathy subpopulation only, a higher diagnostic yield of 20% (1/5 patients) was achieved. CONCLUSION: Every suspected nonparaneoplastic autoimmune retinopathy patient should benefit from gene panel testing to not overlook undiagnosed IRDs. By contrast, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy subpopulations did not benefit from genetic testing in this study.

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.