Tuberous sclerosis: a genetic study.

Tuberous sclerosis is an autosomal dominant condition, but with a varied clinical picture.In the severe and fully developed form, the patient is a mentally defective epileptic with adenoma sebaceum and retinal phakomata.He may also have other typical skin lesions such as shagreen patches, white naevi, and subungual fibromata.However, milder forms occur, without mental retardation or epilepsy.There have been several clinical studies in the past, many of which relate to selected populations and therefore emphasize the severer aspects of the disease.Critchley and Earl (1932), Dawson (1954), Nickel and Reed (1962), Reed, Nickel, and Campion (1963), and Zaremba (1968) have produced careful studies of patients with tuberous sclerosis, all seen personally, and all drawn from mental institutions.Ross and Dickerson (1943) collected 23 personal cases, who had presented to hospital with epilepsy.Lagos and Gomez (1967) recently have reviewed the records of a large series of 71 cases from the Mayo Clinic from 1935 to 1964.AIMS OF PRESENT SURVEY Genetic counselling in tuberous sclerosis depends upon recognition of the disease in relatives.The important question is what are the minimal manifes- tations, in a parent of an apparently sporadic patient, or in a sib of a patient, which show that they are heterozygous for the gene and so at risk 591 University of Texas Rio Grande Valley.