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Purpose: To present a case with signs suggestive of a retinal vasoproliferative tumor. Methods: A case report was evaluated and a surgical video presented. Results: A 61-year-old White man presented with an amelanotic retinal tumor associated with exudation, retinal edema, and overlying telangiectatic vessels, suggestive of a retinal vasoproliferative tumor. Standardized echography showed an irregular mass with medium-to-high internal reflectivity and internal calcification, which suggested chronicity. He was initially treated for an exudative retinal detachment (RD) in the context of a presumed vasoproliferative tumor but later developed combined exudative and rhegmatogenous RD, prompting surgical repair with tumor endoresection. Pathology showed nonpigmented adenoma of the retinal pigment epithelium (RPE). Conclusions: Nonpigmented adenoma of the RPE is a rare tumor, and its clinical similarity to a vasoproliferative tumor should be noted. Endoresection may be considered in cases resulting in RD.
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Optical coherence tomography (OCT) has become a key method for diagnosing and staging radiation retinopathy, based mainly on the presence of fluid in the central macula. A robust retinal layer segmentation method is required for identification of the specific layers involved in radiation-induced pathology in individual eyes over time, in order to determine damage driven by radiation injury to the microvessels and to the inner retinal neurons. Here, we utilized OCT, OCT-angiography, visual field testing, and patient-specific dosimetry models to analyze abnormal retinal layer thickening and thinning relative to microvessel density, visual function, radiation dose, and time from radiotherapy in a cross-sectional cohort of uveal melanoma patients treated with 125I-plaque brachytherapy. Within the first 24 months of radiotherapy, we show differential thickening and thinning of the two inner retinal layers, suggestive of microvessel leakage and neurodegeneration, mostly favoring thickening. Four out of 13 eyes showed decreased inner retinal capillary density associated with a corresponding normal inner retinal thickness, indicating early microvascular pathology. Two eyes showed the opposite: significant inner retinal layer thinning and normal capillary density, indicating early neuronal damage preceding a decrease in capillary density. At later time points, inner retinal thinning becomes the dominant pathology and correlates significantly with decreased vascularity, vision loss, and dose to the optic nerve. Stable multiple retinal layer segmentation provided by 3D graph-based methods aids in assessing the microvascular and neuronal response to radiation, information needed to target therapeutics for radiation retinopathy and vision loss.
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Lesões por Radiação , Degeneração Retiniana , Neurônios Retinianos , Humanos , Testes de Campo Visual , Tomografia de Coerência Óptica/métodos , Estudos Transversais , Retina/diagnóstico por imagem , Retina/patologia , Neurônios Retinianos/patologia , Degeneração Retiniana/patologia , Lesões por Radiação/etiologia , Lesões por Radiação/patologiaRESUMO
PURPOSE: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution. DESIGN: Retrospective, single-institution cohort review. PARTICIPANTS: Patients seen at the University of Iowa between November 1986 and August 2022 clinically suspected to have disease caused by sequence variations in ABCA4. METHODS: DNA samples from participants were subjected to a tiered testing strategy progressing from allele-specific screening to whole genome sequencing. Charts were reviewed, and clinical data were tabulated. The pathogenic severity of the most common alleles was estimated by studying groups of patients who shared 1 allele. Groups of patients with shared genotypes were reviewed for evidence of modifying factor effects. MAIN OUTCOME MEASURES: Age at first uncorrectable vision loss, best-corrected visual acuity, and the area of the I2e isopter of the Goldmann visual field. RESULTS: A total of 460 patients from 390 families demonstrated convincing clinical features of ABCA4-associated retinal disease. Complete genotypes were identified in 399 patients, and partial genotypes were identified in 61. The median age at first vision loss was 16 years (range, 4-76 years). Two hundred sixty-five families (68%) harbored a unique genotype, and no more than 10 patients shared any single genotype. Review of the patients with shared genotypes revealed evidence of modifying factors that in several cases resulted in a > 15-year difference in age at first vision loss. Two hundred forty-one different alleles were identified among the members of this cohort, and 161 of these (67%) were found in only a single individual. CONCLUSIONS: ABCA4-associated retinal disease ranges from a very severe photoreceptor disease with an onset before 5 years of age to a late-onset retinal pigment epithelium-based condition resembling pattern dystrophy. Modifying factors frequently impact the ABCA4 disease phenotype to a degree that is similar in magnitude to the detectable ABCA4 alleles themselves. It is likely that most patients in any cohort will harbor a unique genotype. The latter observations taken together suggest that patients' clinical findings in most cases will be more useful for predicting their clinical course than their genotype. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Transportadores de Cassetes de Ligação de ATP , Genótipo , Doenças Retinianas , Acuidade Visual , Humanos , Estudos Retrospectivos , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Adulto , Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Criança , Acuidade Visual/fisiologia , Adulto Jovem , Pré-Escolar , Doenças Retinianas/genética , Doenças Retinianas/diagnóstico , Campos Visuais/fisiologia , Estudos Longitudinais , Mutação , Alelos , Tomografia de Coerência ÓpticaRESUMO
Introduction: There is an increase in pigmentation that occurs in many tumors following plaque brachytherapy for choroidal melanoma. Correctly distinguishing between increased pigment at the tumor border versus true growth is imperative. We performed a retrospective review of patients treated with I-125 brachytherapy for choroidal melanoma at our institution to study this phenomenon. Methods: Records were reviewed for all patients undergoing plaque brachytherapy for uveal melanoma for a 5-year period (N = 195). Patients with iris and anterior tumors were excluded. Tumors treated more than 31 days after presentation were excluded. Fundus images for patients with increased pigmentation at any of the borders of the tumor at 6-month follow-up that extended beyond the initial pigmented margin were included (N = 20; 8 F, 12 M). Imaging at the last follow-up was reviewed, and it was confirmed that all tumors involuted appropriately with no evidence of local recurrence. The date of initial exam, time to treatment, and follow-up interval were recorded for each included patient. Results: Twenty patients (10%) exhibited increased pigment deposition at any of the borders of the tumor at 6-month follow-up that extended beyond the initial pigmented margin. Average tumor thickness was 3.2 mm (1.3-5.1); average largest tumor basal diameter was 11.6 mm (7-15.5). Average time from diagnosis to treatment was 25 days (17-31). Average length of follow-up was 35 months (16-68). No patient developed recurrence during the duration of follow-up, and 1 patient had developed metastasis. Conclusion: We describe the phenomenon of increased pigment deposition, "edge creep," at the borders of choroidal melanomas treated with plaque brachytherapy that gave the appearance of initial tumor growth but then subsequently remained stable over time. It is important that treating ocular oncologists be aware of this phenomenon to avoid unnecessary diagnosis of local recurrence.