ABSTRACT
The present work is on an Egyptian family with ten males in three generations affected by Norre's disease. Only 34 affected families have been reported in different localities. The 35th reported here, is the first detected in Africa. The disease segregates as an X-linked recessive pleiotropic trait. The patients are ten affected males in three generations. Their ages varying from 3[1/2] to 46 years. They have the classical presentations of the disease which are: [1] Congenital blindness in 100% of cases. [2] Progressive sensorineural hearing loss. [3] Mental deficiency. Moreover additional findings are found: [1] Progressive deafness was found to start at age 10 years in every body. [2] Microcephaly in all cases, [3] Short thumbs in all cases, [4] Total impotence after age 30, with normal testicular biopsy, testosterone level and seminal analysis. This may be due to late degeneration in the center of erection. We conclude that the genetical relationship between this new variant and the classical form of the disease could result from the following situations: [1] Two different alleles for the two forms; [2] Different loci on the X chromosome; [3] They result from the action of a modifier on the Nome's disease gene