Ocular abnormalities in terminal deletion of the long arm of chromosome seven

Patients with distal deletions of the long arm of chromosome 7q have been reported with a variety of non-specific findings. Ocular findings have been limited to hypertelorism, palpebral fissure abnormalities, strabismus and speckled irides and no intraocular pathology with the exception of one case with unilateral optic nerve coloboma. We report a patient with terminal deletion of the long arm of chromosome 7 with marked ocular abnormalities including severe microphthalmus and large retinal colobomas.