The Colobomaeye Syndrome - A Rare Casereport

Abstract

The COLOMBOMA EYE which means a lash less eye becomes one of the striking features of a rare disorder called TREACHER COLLINS SYNDROME. It may be a condition that affects the development of facial bonesand other tissues of the face. This condition features a wide range of signs and symptoms,from hardly perceptible to severe. Treacher Collins syndrome also called as Franceschettisyndrome is an autosomal dominant disorder of craniofacial development with variableexpressivity. Its named after E Treacher Collins who described the essential components ofthe condition in 1900. It is caused by the mutation of particular gene of which 81-90% of cause will be due to the mutation of TCOF1 gene. Incidence of this syndrome is approximately one in fifty thousandlive births and it affects both genders equally. It affects structures which are derivatives of theprimary and second brachial arches. The foremost common manifestations of TCS are theantimongloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia ofzygoma and mandible and a spread of ear abnormalities. People with Treacher Collinssyndrome usually have normal intelligence.This article describes clinical and radiographicfeatures of TCS in a 29 yr old male who had reported to the department of Oral Medicineand Radiology with the complaint of forwardly placed upper and lower front teeth since birth.Alsopathogenesis, diagnostic procedure, diagnosis based onscore, management andpreventive aspects are discussed.