{"title":"Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam.","authors":"Mitchell T Allphin, Aparna Ramasubramanian","doi":"10.1007/s10689-024-00424-w","DOIUrl":null,"url":null,"abstract":"<p><p>Retinoblastoma (RB) is the most common intraocular malignancy in children, and patients with family history of retinoblastoma are at high risk of disease. While intensive screening programs have led to earlier diagnosis and higher rates of globe salvage, visual outcomes have not improved. Handheld optical coherence tomography (HH-OCT) is a non-invasive imaging modality that can be utilized for screening, diagnosis, and monitoring of Familial RB. We present a case of a patient who was found to have bilateral Familial RB with HH-OCT after having a normal fundoscopic exam. This case demonstrates the utility of HH-OCT imaging and suggests that further research is needed to see whether screening guidelines should require OCT imaging during screening.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"12"},"PeriodicalIF":1.8000,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-024-00424-w","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
视网膜母细胞瘤（RB）是儿童最常见的眼内恶性肿瘤，有视网膜母细胞瘤家族史的患者患病风险很高。虽然强化筛查计划使诊断更早，球体挽救率更高，但视觉效果却没有改善。手持式光学相干断层扫描（HH-OCT）是一种无创成像模式，可用于筛查、诊断和监测家族性视网膜母细胞瘤。我们介绍了一例在眼底镜检查正常后通过 HH-OCT 发现患有双侧家族性红斑狼疮的患者。该病例证明了 HH-OCT 成像的实用性，并提示需要进一步研究筛查指南是否应要求在筛查过程中进行 OCT 成像。
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam.
Retinoblastoma (RB) is the most common intraocular malignancy in children, and patients with family history of retinoblastoma are at high risk of disease. While intensive screening programs have led to earlier diagnosis and higher rates of globe salvage, visual outcomes have not improved. Handheld optical coherence tomography (HH-OCT) is a non-invasive imaging modality that can be utilized for screening, diagnosis, and monitoring of Familial RB. We present a case of a patient who was found to have bilateral Familial RB with HH-OCT after having a normal fundoscopic exam. This case demonstrates the utility of HH-OCT imaging and suggests that further research is needed to see whether screening guidelines should require OCT imaging during screening.
期刊介绍：
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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