]> 2026-07-31T11:51:07+00:00 WBR0782 0 en Elastin gene mutation Elastin mutations are involved in the pathogenesis of Marfan's syndrome. Retinoblastoma gene mutation Retinoblastoma gene mutations are responsible for development of retinoblastoma which can cause leukocoria. FGFR3 gene mutation FGFR3 gene mutations are responsible for achodroplasia. Collagen gene mutation Collagen gene mutations are seen in patients with osteogenesis imperfecta. p53 gene mutation p53 gene mutations are responsible for the development of several cancers including osteosarcoma, breast and colon cancer. Leukocoria refers to an abnormal white reflection from the retina where a usual red reflex is expected. Leukocoria in infants raises concern for two important entities: congenital cataracts and retinoblastoma. Retinoblastoma is a rapidly progressing tumor that develops from cells of a retina. It can either be sporadic or inherited. In both cases, the tumor develops due to a mutation in the RB1 gene whose protein product, the retinoblastoma protein, is a tumor suppressor that inhibits G1-to-S transition and regulates the cell cycle. In its inherited form, the mutation of the RB1 gene predisposes to other malignancies later in life.<br/> '''Educational Objective:''' Leukocoria is an abnormal white reflex that can be seen in children with retinoblastoma. Retinoblastoma occurs due to a mutation in the RB1 gene.<br/> '''References:''' Abramson DH, Frank CM, Susman M, Whalen MP, Dunkel IJ, Boyd NW. Presenting signs of retinoblastoma. J Pediatr. 1998;132(3 Pt 1):505-8. Pathophysiology B Head and Neck Oncology 2020-10-28T01:41:48Z 2459150.5706944 WBR0782