1,721,010 research outputs found
Retinocytoma associated with calcified vitreous deposits
No full textPURPOSE. To report a case of bilateral retinocytoma associated with calcified vitreous deposits. METHODS. Case report. RESULTS. On routine examination, a 35-year-old asymptomatic father of a child with bilateral retinoblastoma presented bilateral retinocytoma associated with vitreous calcifications, in the vicinity of the retinocytoma in his left eye. Fundus photographic documentation and fluorescein angiography were performed. The patient has been followed up for 10 years. CONCLUSIONS. The lesions in both eyes have remained stable without signs of growth or malignant transformation. Calcified vitreous deposits are a recently described feature of retinocytoma in addition to the three classic features: translucent retinal mass, retinal pigment epithelial alteration, and calcificatio
Fovea-sparing coats disease: A rare clinical entity
No full textPurpose: To evaluate the rarity, clinical features and management of Coats disease characterized by fovea-sparing enhancing the importance of pediatric retinal screening and early management to maintain a good visual acuity. Methods: Retrospective analysis of approximately 40 patients affected by Coats disease between 2000 and 2020 at the Retinoblastoma Referral Center and Ophthalmology unit of the University of Siena in Italy. Results: Two patients with fovea sparing Coats disease were included. Both presented an extrafoveal Coats disease (stage 2A by Shields classification) when they were 5 and 6 years old respectively. They had no anterior findings and a presenting visual acuity of 20/20 reflecting the early stage and a milder phenotype of the disease which are indeed more likely to be found in patients older than 3 years at presentation. Both presented telangiectasia and retinal exudation in the affected eye. Standard Argon laser photocoagulation and subsequently Cryotherapy were performed in the telangiectatic retinal periphery of both patients obtaining an excellent control and regression of the disease. Conclusions: Careful pediatric retinal screening and early management are crucial to ensure a good visual prognosis in such an early feature of Coats disease as fovea sparing since this condition unfortunately tends to recall the physician’s attention in more advanced stages. Due to the extremely poor number of articles regarding such a rare feature of Coats disease like fovea sparing, we report our experience. © The Author(s) 2020
Photostimulation with subthreshold yellow micropulsed laser for chronic residual subfoveal rhegmatogenous retinal detachment after surgery
No full textPurpose
The aim of this pilot study, the first of this kind, was to evaluate the safety and efficacy of Subthreshold Yellow Micropulsed Laser (SML) to treat eleven patients with chronic residual subfoveal Retinal Detachment (RD) after surgery to repair Rhegmatogenous Retinal Detachment (RRD).
Methods
Eleven eyes with residual subfoveal RD after surgery, dating from eight to sixteen months before treatment have been evaluated. Evaluation included visual acuity, Amsler test, ophthalmoscopy, Autofluorescence (AF) and Spectral-Domain Optical Coherence Tomography (SD-OCT).
Results
After treatment we recorded improved visual acuity and Amsler test, disappearance of subfoveal detachment by ophthalmoscopy, reduced retinal pigment epithelial distress by AF and restored macular retinal profile without neuroretinal alterations by SD-OCT evaluation in nine eyes.
Conclusions
Photostimulation with SML, selective for the Retinal Pigment Epithelium (RPE), is proved to be painless, effective and safe. The possibility to reabsorb subretinal liquid by foveal and parafoveal RPE photostimulation, without neuroretinal damage, opens new prospects for the therapy of this pathology. If further studies confirm the results of the present pilot study, SML treatment can be considered the first and only non invasive option for chronic residual RD after retinal surgery to repair RRD
Does the evidence matter in medicine? The retinoblastoma paradigm
No full textRetinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mechanisms are involved in the genesis of retinoblastoma. More importantly, the "two hit" theory makes predictions, concerning the age distribution of the tumour, its mode of "transmission" (hereditary retinoblastoma), and its pathogenesis, which are not fulfilled by the clinical reality. Overall, the "two hit" theory represents a rather simplistic and outdated model to explain tumour development and clinical evolution of retinoblastoma
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases
No full textIntroduction: This case report presents two patients affected by a very rare association of bilateral retinoblastoma and osteogenesis imperfecta. Case report: Two Caucasian males with familial history and clinical signs of osteogenesis imperfecta came to our attention for bilateral leukocoria. The ocular fundus examination revealed bilateral retinoblastoma. Proper therapies were dispensed in order to achieve full regression. Genetic counseling was performed. Discussion: The primary role of genetics in retinoblastoma pathogenesis in widely known, and different genes have been identified. Osteogenesis imperfecta is a rare connective tissue disorders, caused by mutated genes encoding for collagen. The single gene defect in osteogenesis imperfecta type VI is Serpin Family F Member 1 (SERPINF1), a neurotrophic factor for the neuronal differentiation in retinoblastoma cells. The association of bilateral retinoblastoma and osteogenesis imperfecta could be the result of the mutation of a single gene playing a role in a hypothetical common pathway. © The Author(s) 2020
Pleomorphic adenoma of the lacrimal gland in an 18-year-old girl irradiated for bilateral retinoblastoma
No full textPURPOSE:
To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma.
MATERIALS AND METHODS:
Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised.
RESULTS:
Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma
Does the evidence matter in medicine? The retinoblastoma paradigm.
No full textRetinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mechanisms are involved in the genesis of retinoblastoma. More importantly, the "two hit" theory makes predictions, concerning the age distribution of the tumour, its mode of "transmission" (hereditary retinoblastoma), and its pathogenesis, which are not fulfilled by the clinical reality. Overall, the "two hit" theory represents a rather simplistic and outdated model to explain tumour development and clinical evolution of retinoblastoma
Conventional, diffusion, and permeability MR findings in ocular medulloepithelioma
No full textPurpose: To describe the neuroradiological features of intraocular medulloepithelioma. Methods: We retrospectively analyzed the clinical, histopathological, and MRI data of five children with medulloepithelioma. In addition to conventional images, DWI was performed in four patients and mean ADC was calculated; this was limited to the technique of this cohort of patients. DCE was performed in all patients. This is the first paper that presents diffusion and perfusion characteristics of medulloepithelioma. Results: Four tumors were malignant teratoid variants, two non-teratoid variants. Tumors were hyperintense on T1-weighted images and hypointense on T2-weighted images. Calcifications were detectable in two out of five tumors. Cavities were detectable in three out of five tumors. All tumors showed some degree of enhancement. The mean ADC of all four patients was 1.156 ± 242.75 × 10−3 mm2/s. Mean ktrans, Ve, Kep, TME, AUC, SER, and peak enhancement were 0.082 ± 0.054, 0.19 ± 0.076, 0.31 ± 0.084, 0.97 ± 0.0784, 1.22 ± 0.81, 67.34 ± 31.7, and 14.84 ± 7.34 respectively. TICs showed a very high ratio of slow increase, > 50% persistence and some degree of wash out. Teratoid variants showed higher K-trans, AUC, VE, TME, and persistent TIC pattern than non-teratoid ones, while plateau pattern ratio was lower. Conclusion: Conventional MR findings were similar to previously reported cases. Mean ADCs were moderately high. TICs showed slow increase and presence of wash out. K-trans, AUC, VE, and TME were higher in teratoid variants. Permeability parameters in differential diagnosis with lesions mimicking medulloepithelioma need further investigations
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