Retinopathies with Phacomatoses; Pathophysiology, Findings, Diagnosis and Treatment (Von Hippel-Lindau Disease, Tubular Sclerosis, Neurofibromatosis)

Abstract

Phacomatosis is the general name for a group of diseases (Neurofibromatosis 1 (NF-1), Neurofibromatosis 2 (NF-2), Von Hippel Lindau, tuberous sclerosis, ataxia-telangiectasia, and Sturge Weber syndrome) that include different clinical syndromes characterized by eye, skin, neurological and oncological symptoms. They are formed as a result of tumor suppressor protein loss, which controls the abnormal growth of cells. Most of these diseases are autosomal dominant. Neurofibromatosis -1 is the most common type of phacomatosis. autosomal dominant passes. Skin (cafe au-lait = milk coffee stain, armpit, and inguinal freckles), ocular involvement, and nerve involvement (neurofibromas) are seen. In NF-2, in addition to NF-1, 8th cranial nerve involvement is present. In ocular involvement of neurofibromatosis, proptosis, strabismus, pulsatile exophthalmos, ptosis may occur due to neurofibromas. Hamartomas in iris (lisch nodules), posterior subcapsular cataract (more often in NF-2), retinal astrocytic hamartomas, and optic glioma can be seen. Von Hippel Lindau passes autosomal dominant. Brain (cerebellum) spinal cord, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, and renal or pancreatic cysts may occur as systemic involvement. Retinal hemangioblastomas can be seen in ocular involvement. Tuberous sclerosis passes autosomal dominantly. It is a disease in the group of phacomatosis, characterized by hamartomas affecting more than one organ, including the skin, central nervous system, lung, heart, and kidney. Multiple astrocytic hamartomas can be seen in ocular involvement. In conclusion, when these lesions are seen in the eyes, it is necessary to treat them with a multidisciplinary approach considering that systemic involvement may occur.