de Jong Paulus T V M, Mooy Cornelia M, Stoter Gerrit, Eijkenboom Wilhelmina M H, Luyten Gregorius P M
Netherlands Institute for Neurosciences, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.
Ophthalmology. 2006 Jun;113(6):1040-4. doi: 10.1016/j.ophtha.2006.02.047. Epub 2006 May 2.
To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untreated and otherwise normal right eye of a 27-year-old white male with a g.153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas.
Retrospective interventional case report.
Over the years, the right eye was irradiated twice and underwent trans-pars plana vitrectomy, transscleral cryocoagulation, argon laser photocoagulation of tumors and their feeder vessels, extracapsular cataract extraction with posterior chamber lens implantation, and neodymium:yttrium-aluminum-garnet laser treatment of after-cataract in the form of Elschnig's pearls. Finally, the patient received combination chemotherapy with etoposide, methotrexate, actinomycin D, cisplatin, and vincristine.
The eye finally had to be removed 12 years later due to tumor recurrences and seeding, pseudohypopyon, and elevated intraocular pressure. Histopathology showed microcellular retinoblastoma cells in the anterior chamber angle and trabecular meshwork without subconjunctival extension and in the nasal ciliary body, pars plana, internal limiting membrane, and optic nerve head anterior to the cribriform plate. The patient is without local or systemic recurrences at age 50, 11 years after the last eye was enucleated.
This report shows that retinoblastoma patients may have tumor growth in their fellow eye 25 years after the first eye and also that Elschnig's after-cataract pearls still can arise after irradiation of a lens with 45 Gy.
描述一名27岁白人男性未治疗的正常右眼视网膜母细胞瘤的记录生长情况、临床病程及组织病理学特征。该患者视网膜母细胞瘤1基因存在g.153211T>A（p.Tyr606X）突变，其左眼在2岁时因两个视网膜母细胞瘤而被摘除。
回顾性干预病例报告。
多年来，右眼接受了两次放疗，并接受了经平坦部玻璃体切除术、经巩膜冷冻疗法、对肿瘤及其滋养血管进行氩激光光凝、行囊外白内障摘除及后房型人工晶状体植入术，以及用钕：钇铝石榴石激光治疗后发性白内障（以Elschnig珍珠样小体形式）。最后，患者接受了依托泊苷、甲氨蝶呤、放线菌素D、顺铂和长春新碱的联合化疗。
12年后，由于肿瘤复发及播散、假性前房积脓和眼压升高，最终不得不摘除眼球。组织病理学显示，在前房角和小梁网有微小细胞性视网膜母细胞瘤细胞，无结膜下扩展，在鼻侧睫状体、平坦部、内界膜和筛板前方的视神经乳头也有。在最后一只眼摘除11年后，患者50岁，无局部或全身复发。
本报告表明，视网膜母细胞瘤患者在第一只眼发病25年后，其对侧眼仍可能发生肿瘤生长，并且在用45 Gy照射晶状体后仍可出现Elschnig后发性白内障珍珠样小体。
