Purpose:Multicentric osteolysis nodulosis and arthropathy (MONA) syndrome is a rare autosomal recessive skeletal dysplasia. Caused by mutations in the matrix metalloproteinase 2 gene (MMP2) on chromosome 16q12, this syndrome has infrequently been associated with ophthalmic manifestations. Corneal opacities have been reported but not described or documented in detail. Methods:Complete ophthalmologic examination and multimodal anterior segment imaging were used to characterize the corneal findings in a patient with MONA syndrome. Results:A 19-year-old with MONA syndrome was referred for an eye exam based upon MONA screening recommendations. Visually insignificant peripheral corneal opacities were noted. Anterior segment optical coherence tomography (AS-OCT) demonstrated posterior stromal and endothelial hyperreflectivity. Confocal microscopy demonstrated an acellular peripheral endothelium with a normal central endothelium. Conclusions:Corneal opacities can occur with MONA syndrome, which is caused by mutations in the MMP2 gene. In the patient presented here, the corneal opacities are peripheral, deep stromal, with sparing of the anterior stroma and epithelium.

PurposeTo characterize the ocular inflammatory side effects associated with immune checkpoint inhibitor (CPI) treatment in a Northern California population.DesignRetrospective case series.ParticipantsPatients receiving CPI within an integrated healthcare delivery system.MethodsAll patients within Kaiser Permanente Northern California receiving CPI between January 1, 2012 and November 1, 2018 were identified. Medical records of those seen in the ophthalmology clinic at least once were retrospectively reviewed.Main Outcome MeasuresType and duration of ocular inflammation, indication for and exposure to CPI, time from exposure to diagnosis of ocular inflammation.Results31 cases of ocular inflammation were identified in 5061 patients (0.61%) receiving CPI. Mean +/- SD age was 67 +/- 11.9 (range 38-89). Mean time from exposure to diagnosis was 6.8 +/- 5.5 months (range 0.5-17). 87% of cases were bilateral, and 43% of cases were chronic. Average ophthalmology follow-up was 16 +/- 18 months (range 0-71). 16/31 (52%) had anterior uveitis, 7/31 (23%) had serous retinal detachment or panuveitis resembling Vogt-Koyanagi-Harada syndrome, 4/31 (13%) had papillitis, and 6/31 (19%) had diplopia or ocular motility defect. There was one case each (3.2%) of melanoma associated retinopathy, corneal edema, granulomatous lacrimal gland enlargement, and choroidal neovascularization.ConclusionsOcular inflammation is a rare immune associated side effect of CPI treatment, the most common manifestation of which is anterior uveitis.

This report describes an infant who developed iris heterochromia 2 years after presenting at age 2 months with acquired Horner syndrome following excision of a parapharyngeal neuroblastoma. Iris heterochromia is classically associated with congenital, not acquired, Horner syndrome due to a disruption of the oculosympathetic pathway early in life that alters iris melanocyte migration, leading to an ipsilateral lighter colored iris compared to the fellow iris. In the case reported here, the disruption to the oculosympathetic pathway occurred so early in life that normal iris melanocyte migration was impacted on the affected side, leading to eventual iris heterochromia that was noted almost 2 years later.

This report describes an unusual and diagnostically challenging case of subcutaneous soft tissue xanthogranulomas of bilateral orbits of a 58-year-old female patient seen in a private oculoplastics practice. Accurate and timely diagnosis is crucial in xanthogranulomatous diseases so that any systemic manifestations can be identified and addressed in a multidisciplinary fashion. Periorbital xanthogranuloma is a frequent early manifestation of adult xanthogranulomatous disease, and its association with life-threatening systemic disease requires accurate diagnosis and prompt work-up. This case describes an otherwise asymptomatic patient who presented with bilateral orbital masses causing visually significant ptosis, initially diagnosed as soft tissue xanthomas, and later identified as xanthogranulomas. It is important for physicians of all fields, from primary care to surgical subspecialty, to be aware that xanthogranulomatous disease may first present as periorbital lesions and/or orbital masses, and that further work-up for vision and life-threatening systemic disease is warranted.

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