Genetics and Current Research Models of Mendelian Tumor Predisposition Syndromes with Ocular Involvement.

in Progress in retinal and eye research by Lola P Lozano, Renato Jensen, Madeleine Jennisch, Narendra G Pandala, Farzad Jamshidi, H Culver Boldt, Budd A Tucker, Elaine M Binkley

TLDR

  • The study provides a comprehensive review of six hereditable tumor predisposition syndromes with ocular involvement, discussing clinical presentation, molecular pathophysiology, genetics, and current research efforts.

Abstract

In this review, we aim to provide a survey of hereditable tumor predisposition syndromes with a mendelian inheritance pattern and ocular involvement. We focus our discussion on von Hippel-Lindau disease, neurofibromatosis type 1, NF2-related schwannomatosis, tuberous sclerosis complex, retinoblastoma, and the BAP1 Tumor Predisposition Syndrome. For each of the six diseases, we discuss the clinical presentation and the molecular pathophysiology. We emphasize the genetics, current research models, and therapeutic developments. After reading each disease section, readers should possess an understanding of the clinical presentation, genetic causes and inheritance patterns, and current state of research in disease modeling and treatment.

Overview

  • The study aims to provide a comprehensive review of hereditable tumor predisposition syndromes with a Mendelian inheritance pattern and ocular involvement.
  • The study focuses on six diseases: von Hippel-Lindau disease, neurofibromatosis type 1, NF2-related schwannomatosis, tuberous sclerosis complex, retinoblastoma, and the BAP1 Tumor Predisposition Syndrome.
  • The study discusses the clinical presentation, molecular pathophysiology, genetics, current research models, and therapeutic developments for each of the six diseases.

Comparative Analysis & Findings

  • Each of the six diseases has a unique clinical presentation and molecular pathophysiology, but all share a hereditable nature with Mendelian inheritance patterns.
  • The study highlights the genetic causes and inheritance patterns for each disease, providing a comprehensive understanding of the genetic components.
  • The study discusses current research models and therapeutic developments for each disease, providing insights into ongoing research efforts and potential treatment options.

Implications and Future Directions

  • The study provides valuable insights into the genetic and molecular mechanisms underlying hereditable tumor predisposition syndromes with ocular involvement, potentially informing future research and therapeutic strategies.
  • Future research directions may include further elucidation of the genetic causes and molecular pathophysiology of each disease, as well as the development of targeted therapies and treatment strategies.
  • The study underscores the importance of understanding the genetic and molecular mechanisms underlying these diseases, ultimately aiming to improve diagnosis, treatment, and patient outcomes.
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