Ritscher-Schinzel syndrome was first described 1987, in the case of two sisters of healthy parents who have had posterior fossa malformations, congenital heart defects and craniofacial anomalies (5). It is believed that this is an autosomal recessive hereditary disorder. So far, according to ORD data (Office of Rare Disease of the National Institutes of Health), only about 30 cases are reported...

It is well recognized that typical colobomata of the uveal tract may show a strong hereditary tendency and that the transmission is usually dominant (Kelecom, I967). Associated with such colobomata there may be other ocular anomalies, such as microcornea (Srivastava, I96I; Batra and Paul, I967), microphthalmos (Petrovic-Ducic, I959; Duggan and Hassard, I96I; Zeiter, i963), aniridia (Lewallen, I...

A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.

THIS case of cataract in a woman with bilateral congenital colobomata of the iris, and its extraction, is presented because of its rarity as a surgical event. The incidence of coloboma of the iris and retina is variously given by different workers. Clarke and his colleagues found twelve cases of typical colobomata of the iris in a series of 500 ocular abnormalities (Clarke, Bancroft, Allen, Wan...

The chicken coloboma mutation exhibits features similar to human congenital developmental malformations such as ocular coloboma, cleft-palate, dwarfism, and polydactyly. The coloboma-associated region and encoded genes were investigated using advanced genomic, genetic, and gene expression technologies. Initially, the mutation was linked to a 990 kb region encoding 11 genes; the application of t...