Genetic eye tumor

Genetic eye tumor (Orphanet code 183619) is a broad classification encompassing inherited neoplasms that arise within the structures of the eye. This grouping includes several distinct tumor types that have a hereditary or genetic basis, the most well-known being retinoblastoma, which is caused by mutations in the RB1 gene and typically presents in early childhood. Other genetic eye tumors may include uveal melanoma with hereditary predisposition (associated with BAP1 mutations), as well as other rare inherited ocular neoplasms. These tumors can affect various parts of the eye including the retina, uveal tract (iris, ciliary body, and choroid), and surrounding orbital tissues. Clinical features vary depending on the specific tumor type but commonly include leukocoria (white pupillary reflex), strabismus (misalignment of the eyes), decreased visual acuity, eye pain, visible changes in the iris or pupil, and in advanced cases, proptosis (bulging of the eye). Some genetic eye tumors carry a risk of metastasis and may be associated with increased susceptibility to other cancers elsewhere in the body, particularly in hereditary retinoblastoma where patients have an elevated lifetime risk of secondary malignancies such as osteosarcoma. Treatment depends on the specific tumor type, size, location, and stage at diagnosis. Options may include focal therapies (laser photocoagulation, cryotherapy, thermotherapy), chemotherapy (systemic, intra-arterial, or intravitreal), radiation therapy (external beam or brachytherapy), and in severe cases, enucleation (surgical removal of the eye). Genetic counseling is essential for affected families, and surveillance protocols are recommended for individuals carrying pathogenic variants associated with hereditary eye tumors. Early detection significantly improves outcomes and the possibility of preserving vision.

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