Ocular neurofibromatosis

Neurofibromatosis (NF-1) is also one of the nevus-type hamartomas. In 1882, Von Recklinghausen first reported the clinical and pathological changes of the disease, so it was also known as Recklinghausen disease and von Recklinghausen disease. It is a hereditary disorder with autosomal dominant inheritance and irregular penetrance. The genetic characteristics are variable and the mutation rate is high. The incidence rate is about 1/3000 of newborns, and the age of onset can be at birth, late childhood or adult. The pathogen occurs in neuroblastomatous cell growth and development disorders, and is characterized by the proliferation of peripheral nerve fibers to form tumor-like nodules, invading the skin, internal organs, and nervous system, and accompanied by skin pigmentation spots. Clinically, it is characterized by abnormal skin pigmentation and multiple tumor-like hyperplasia of the trunk, limbs, and peripheral nerves of the eye, also known as multiple neurofibromatosis. There are three main types of this disease. Type Ⅰ is the peripheral type, the most common type; type Ⅱ is the central type, bilateral acoustic neuroma and a few skin injuries; type Ⅲ is the partial type, and the lesion is limited to a certain part of the body surface.