...Nakul Singh; Meghan J. DeBenedictis; Arun D. Singh Background: Retinoblastoma (RB) is a potentially heritable childhood cancer that is vision- and life-threatening. Assessing the risk of inheriting RB is important for structuring ophthalmic and genetic screening of family members. Purpose...

.... Alagille syndrome Posterior embryotoxon Iris clefts Lacy vacuolization JAG1 Ocular pathology Anterior segment, pathology Genetics Pediatric ophthalmology The authors would like to thank our Research Assistant, Rizwan Alvi, for his invaluable assistance. This study was funded in part...

... analysis revealed abnormalities in chromosomes 3 and 8. Conclusion: Medulloepithelioma is often initially misdiagnosed. Though congenital in nature, it can exhibit rapid growth, have chromosomal abnormalities, and must be considered in all age groups. Genetics Intraocular medulloepithelioma Tumor...

... could be observed and the eye saved from enucleation [ 1 ]. He also postulated a histopathologic similarity to ocular melanocytosis and suggested that melanocytoma may have a clinical presentation analogous to cutaneous blue nevi [ 2 ]. Previous work has revealed mutations in GNAQ/11 as a genetic...

... and give a comparison to typical retinoblastoma. The second purpose was to set up a discussion of the genetic paradigm of diffuse infiltrating retinoblastoma. It has often been described to occur sporadically; however, in the last years, it has been shown that it might be heritable. A literature search...