Abstract
Purpose. The objective of the present study was to provide a short review and summarize the available information concerning the main symptoms of diffuse infiltrating retinoblastoma encountered in the ophthalmological practice and compare them with the manifestations of typical retinoblastoma. The secondary objective was to discuss the genetic paradigm of diffuse infiltrating retinoblastoma that is frequently interpreted as a sporadic condition despite the evidence suggesting its genetic predisposition and inheritable etiology that have become increasingly widely recognized during the last years. A literature search for the information about diffuse infiltrating retinoblastoma in the Russian, English, German, and Spanish scientific journals made it possible to reveal a total of 77 patients described in the available literature. In addition, the main specific clinical and gender-related features of diffuse infiltrating retinoblastoma were identified. The results of initial working diagnostics and referral diagnoses are presented with special reference to the importance of the molecular-genetic analysis and the multidisciplinary approach to the treatment and examination of the patients and their relatives. It is concluded that the adequate medical follow-up care needs to be provided in order to diagnose the possible associated cancers. A clinical case of diffuse infiltrative retinoblastoma in a 6-year old male patient is presented.
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