Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare testicular tumors, representing <1% of all testicular neoplasms. Almost 40% of patients with LCCSCTs will present in the context of an inherited tumor predisposition condition, such as Carney complex (CNC) or Peutz-Jeghers syndrome. We report the case of a 42-year-old man who had presented with a right testicular mass, and was diagnosed with metastatic LCCSCT. The patient underwent radical orchiectomy, achieving initial remission of his disease. However, lymph node and hepatic metastases were identified. He received chemotherapy without response, and he died of complications of his disease 4 years after the initial diagnosis. Genetic analysis of the tumor and a lymph node metastasis identified a somatic frameshift mutation in the PRKAR1A gene (c.319delG, p.E107fs*22). The mutation was predicted to result in premature termination of the PRKAR1A protein and, thus, not be expressed at the protein level, consistent with other PRKAR1A nonsense mutations. The patient was extensively screened for signs of CNC, but he had no stigmata of the complex. To the best of our knowledge, the present report is the first of a somatic mutation in the PRKAR1A gene shown to be associated with a seemingly sporadic case of LCCSCT. Somatic PRKAR1A mutations are rare in sporadic tumors, and it is unknown whether this mutation was causative of LCCSCT in our patient who did not have CNC, or contributed to the malignancy of the tumor, which might have been caused by additional mutations.

Purpose: To describe a simple technique of diamond burr-assisted superficial keratectomy for the treatment of peripheral corneal edema. Cases Presentation: Two patients with persistent symptomatic peripheral corneal edema underwent superficial keratectomy with the use of a diamond ophthalmic burr. The efficacy of the treatment was evaluated clinically as well as with anterior segment optical coherence tomography. During the postoperative followup period, no adverse events were observed and corneal edema reduced significantly. The patients were asymptomatic, no epithelial cysts could be identified clinically, and visual acuity remained unchanged. Conclusion: Peripheral superficial keratectomy could be an effective alternative for the treatment of peripheral, symptomatic corneal edema.

The purpose of this study was to present a new surgical technique, namely corneal plication, for the management of high astigmatism and progressive corneal graft protrusion after penetrating keratoplasty (PKP) for keratoconus.Methods: New surgical approach description.Results: A 61-year-old woman with a history of bilateral keratoconus was referred to our institute for the management of progressive corneal graft protrusion in her left eye 25 years after PKP. On presentation, the uncorrected distance visual acuity in the involved eye was counting fingers, whereas slit-lamp examination revealed a clear graft with a crescentic area of thinning in the inferior host cornea, extending from 4 to 9 o'clock that resulted in significant graft protrusion and astigmatism. We proceeded with a novel surgical approach that included "folding" and suturing the thinned, diseased corneal tissue and thus creating a form of corneal plication. No intraoperative or postoperative complications were observed, and uncorrected distance visual acuity was 0.32 6 months after the operation.Conclusions: Corneal graft plication may represent a realistic alternative to more invasive procedures, currently used for the management of this long-term post-PKP complication in patients with keratoconus because it is a nonperforating technique that seems to provide satisfactory anatomical and visual outcomes without the need for any tissue excision or regrafting.

Purpose To evaluate the progression of macular atrophy (MA) based on near-infrared reflectance (NIR) and optical coherence tomography (OCT) images, in patients with age-related macular degeneration (AMD), receiving anti-vascular endothelial growth factor (anti-VEGF) treatment for at least a 6-year period. Materials and Methods This retrospective study included 53 naïve patients (53 eyes) with neovascular AMD from two centers, who were treated with anti-VEGF intravitreal injections and had no MA at baseline. MA was evaluated in an annual basis using NIR images, while all available OCT images were used to confirm that the atrophic area fulfilled the criteria proposed by the Classification of Atrophy Meetings (CAM) group for complete retinal pigment epithelium RPE and outer retinal atrophy (cRORA). Incidence and progression of MA were evaluated. Associations with best-corrected visual acuity (BCVA) and total number of injections were also studied. Results Treatment duration of our patients was 7.34 ± 1.54 years. The mean number of anti-VEGF injections was 24.4 ± 13.6. BCVA at baseline was 0.38 ± 0.27 logMAR while at final visit it was 0.60 ± 0.35 logMAR (p=0.731). The cumulative incidence of new MA at years 1, 2, 3, 4, 5, and 6 was 1.89%, 18.87% 32.08%, 39.62%, 49.06% and 50.94% respectively. In patients who developed MA, mean MA area increased from zero at baseline to 5.66 ± 7.18 mm2 at final visit. The estimated annual enlargement of MA was 0.45 mm/year based on square root transformation (1.12 mm2/year, untransformed data). MA progression does not appear to be significantly associated with age (R=0.055; p=0.784), gender (R=0.113; p=0.576), BCVA (R=0.168; p=0.404) and total number of injections (R=0.133; p=0.255). Conclusion In this real-life setting, half of neovascular AMD patients under anti-VEGF treatment, without MA at therapy initiation, developed MA over a period of at least 6 years. In this work, the number of injections did not seem to have a significant association with MA progression.

Purpose Τo evaluate the evolution of macular atrophy (MA) in patients with neovascular AMD (nAMD), compared with their fellow eyes exhibiting dry AMD (dAMD). Methods This retrospective study included 124 patients from three centers treated with anti-VEGF in their nAMD eye and having dAMD in the fellow eye. Patients without MA at baseline were analyzed to study the time to first MA development. Synchronous and unsynchronous time course of MA was also studied. MA was evaluated using near-infrared images, while all available optical coherence tomography (OCT) images were used to confirm the criteria proposed by the Classification of Atrophy Meetings group for complete MA. Results MA first detection in nAMD eyes increased significantly from year 2 to 6 compared to dAMD eyes. Over the study’s follow-up, 45.1% of nAMD-E developed MA, compared to 16.5% of fellow eyes (p < 0.001). When MA in the two eyes was compared in a synchronous paired manner over 4 years, nAMD eyes had an average MA progression rate of 0.275 mm/year versus 0.110 mm/year in their fellow dAMD eyes. Multivariate ANOVA revealed significant time (p < 0.001), eye (p = 0.003), and time-eye interaction (p < 0.001) effects. However, when MA did develop in dAMD eyes and was compared in an asynchronous manner to MA of nAMD eyes, it was found to progress faster in dAMD eyes (dAMD: 0.295 mm/year vs. nAMD: 0.176 mm/year) with a significant time-eye interaction (p = 0.015). Conclusions In this study, a significant difference in MA incidence and progression was documented in eyes with nAMD under treatment, compared to fellow eye exhibiting dAMD. Eyes with nAMD tended to develop more MA compared to fellow dAMD eyes. However, when atrophy did develop in the fellow dAMD eyes, it progressed faster over time compared to MA in nAMD eyes.

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