INTRODUCTION Coloboma is a Greek word, which describes the defect of all layers of the organ, and it can be congenital or as the result of an injury, operation, or some disease. Congenital upper eyelid coloboma is a rare anomaly, with the unknown incidence. The size of the defect is different, but it always involves all layers of the eyelid. This malformation is more frequent at the upper eyeli...

Closure of the optic cleft occurs about the sixth week of intrauterine life. Clinically, failure of complete closure results in a coloboma of the uveal tract which is variable in its position and extent, and there is sometimes also an associated coloboma of the optic nervehead; defective closure of the cleft is known to be under genetic influence. The usual mode of transmission of such a defect...

Of the other members of the family only the patients' mother was examined clinically by us and no abnormality was found. She gave a clear account of the large family on her own and her husband's side and mentioned only one individual with an abnormality: this was the blind child of a paternal aunt of the propositi who married a full cousin. However, the findings of his ophthalmologist (corneal ...

Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.

PURPOSE Macular schisis or detachment is frequently observed in eyes with optic pits or colobomas. Although spontaneous resolution of the maculopathy has been reported, concurrent changes in the optic nerve coloboma have not. We report three cases of atypical optic nerve colobomas in which dynamic optic nerve changes coincide with the development and subsequent resolution of the associated macu...