Cataract-Glaucoma Syndrome

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Epidemiology

This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations.

Etiology

The syndrome is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye.

Genetic counseling

The disorder is transmitted as an autosomal dominant trait.

Management and treatment

The cataract can be managed by classical surgery. Yearly monitoring of ocular tonus is advised; hypertonia is treated classically when it appears.

Prognosis

The prognosis is good if the disease is correctly treated, but can lead to blindness if diagnosis is delayed.