Coloboma of the crystalline lens

Anomalies of crystalline lens shape and position include: lenticonus, lentiglobus, microspherophakia, coloboma, and ectopia lentis. Lens coloboma probably results from a localized absence or maldevelopment of lens zonules. It may be a variant of nontraumatic (congenital) ectopia lentis, in which the zonular deficiency is more generalized. Coloboma of the lens and nontraumatic ectopia lentis may occur in association with other ocular and systemic anomalies. A case of lens coloboma is presented, and lens coloboma, ectopia lentis, and associated ocular and systemic conditions are reviewed.

A 36-year-old man came to us for routine evaluation. He was found to be moderately myopic. Post-dilated biomicroscopy revealed a crystalline lens coloboma O.D. Since the patient was tall and thin, and his chest X-ray demonstrated abnormal cardiovascular findings, Marfan's syndrome or another connective tissue disorder was suspected. No definitive diagnosis was established for the patient, but he later reported that his sister had Marfan's syndrome, renewing suspicion that he also had the condition. He was advised to wear polycarbonate spectacles and to avoid contact sports.

Coloboma of the crystalline lens and nontraumatic ectopia lentis may occur in isolation or with other ocular pathologies, and may reflect an underlying systemic disorder. Optometric management must address safety issues to reduce the risk of retinal detachment and lens dislocation. Systemic evaluation should be pursued to rule out Marfan's syndrome and similar disorders. Genetic investigation and evaluation of family members may also be merited.