This is an extremely rare syndrome found so far only in a few families. It was first described in 1945 and the family has been followed for over 65 years providing good longitudinal data. More recently, more families have been found and the responsible gene mutation has been identified.
The malformations seem to be confined primarily to the eyes and ears although minor teeth, spine, and skull deformities have been noted in single individuals.
The eyes are usually small with the corneas (windshield of the eye) and lenses often small as well. Both the lenses and corneas may have opacities. Both the front and back of the eyes show evidence of incomplete development (colobomas) resulting sometimes in glaucoma. However, the most devastating impact on vision comes from a deterioration of the rods and cones in the retina. This begins in early childhood and progresses throughout life often leading to blindness. The result may be nystagmus (jerky movements of the eyes) with onset in very young children.
The external ears are usually malformed as well. The earlobes characteristically are notched or underdeveloped. However, MRI and audiometric tests show normal formation and function of the middle and inner ears.
The parents of affected individuals are clinically normal and often related to each other. This information plus the fact that some DNA was altered in both copies of the gene responsible all suggest that this is an autosomal recessive disorder. The parents can thus expect that there is a 25% risk in each future pregnancy that the child will be affected. The parents carry a single copy of the mutation as expected.
Ophthalmologists and ear, nose, and throat specialists likely can make this diagnosis collaboratively. The visual prognosis is poor, primarily because of the progressive nature of the retinal degeneration. The lens opacities (cataracts) can be removed with cataract surgery and glaucoma treatment should be considered but the long-term benefits of any visual rehabilitation are likely limited.