Basic Genetics and Inheritance Models

The structure of genetic material, gene expression, and types of mutations constitute the foundation of inheritance. Autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance models explain monogenic diseases. In addition, co-dominant, polygenic, multifactorial, and epigenetic mechanisms contribute to the development of complex phenotypes. Inherited eye disorders such as retinoblastoma, Stargardt disease, Leber congenital amaurosis, red-green color blindness, and Leber hereditary optic neuropathy are discussed in relation to their genetic transmission. Understanding these genetic models and molecular mechanisms provides a scientific basis for the diagnosis and management of inherited ocular diseases.