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Purpose: To report a novel case of a recurrent melanoma that had a change in its genetic expression profile (GEP) class over a 2-year period. Methods: This retrospective case study evaluated a patient with a recurrent uveal melanoma that changed classes from 1A to 1B. Results: A large melanoma was first treated with brachytherapy, and during that time genetic testing revealed a class 1A tumor. Two years later the tumor was noted to be enlarging, and the patient elected for enucleation. Subsequent GEP showed a class 1B tumor. Conclusions: An aggressive and large recurrent uveal melanoma that had changed from a class 1A to a class 1B tumor on subsequent GEP testing has never been reported before to our knowledge. It may imply that a recurrent or aggressive tumor has more mutations over time that could lead to a higher risk for metastasis. The natural course of a tumor's GEP class should be explored further.
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BACKGROUND: Scleral buckling has been the standard for rhegmatogenous retinal detachment repair in young patients given the typical lack of posterior vitreous detachment, phakic status, and lower risk of proliferative vitreoretinopathy. In older patients, pars plana vitrectomy alone is typically used for rhegmatogenous retinal detachment repair. We report the outcomes and complications of pars plana vitrectomy for rhegmatogenous retinal detachment in young eyes. METHODS: Retrospective, single-center cohort study. Medical records of patients between 15 to 45 years of age undergoing primary pars plana vitrectomy for rhegmatogenous retinal detachment repair between 2010 and 2020 were carefully reviewed. All analyses were performed using the Kruskal-Wallis tests for numeric covariates between age groups. RESULTS: Eyes were stratified by age: 15-24 (group 1, n = 10), 25-34 (group 2, n = 14), and 35-45 (group 3, n = 38). The average number of surgeries were 1.9, 1.4, and 1.1 in groups 1, 2, and 3, respectively (p = 0.004). Single surgery success rates were 50%, 64%, and 92% in groups 1, 2 and 3, respectively (p = 0.005). Final reattachment rates were 80%, 93%, 100% in groups 1, 2, and 3, respectively (p = 0.568). Proliferative vitreoretinopathy developed in 50%, 7%, and 8% of eyes in groups 1, 2, and 3, respectively (p < 0.001). CONCLUSION: While the final reattachment rates were excellent in all groups, the higher rates of proliferative vitreoretinopathy and lower single surgery success rate in younger patients may suggest that primary pars plana vitrectomy may not be the optimal repair method in these age groups.
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PURPOSE: To describe a case of chronic pediatric retinal detachment with multiple macrocysts, its surgical management, and a review of the literature. METHODS: Case report with fundus photography and optical coherence tomography. RESULTS: We describe a case of an asymptomatic, 11-year-old boy with a chronic rhegmatogenous retinal detachment with multiple peripheral macrocysts. The patient had counting fingers visual acuity on presentation. The detachment was successfully surgically repaired with scleral buckling, subretinal fluid drainage, cryotherapy, and a SF6 tamponade. At the 12-month follow-up, the retina remained attached with improvement of visual acuity to 20/100 with resolution of the cysts. Optical coherence tomography revealed loss of macular ellipsoid zone. Genetic testing revealed a heterozygous dominant COL11A1 mutation. CONCLUSION: To the authors' knowledge, this is the first reported case of chronic retinal detachment presenting with multiple peripheral macrocysts in a pediatric patient with Stickler syndrome. More research is needed into the cause and significance of retinal macrocysts, particularly in the pediatric population.