In 1931 Marinesco et al1 reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. In 1947 Sjogren2 reported two patients in two different families, both with consanguineous parents, who had cerebellar ataxia, oligophrenia, and congenital cataracts. Since that time the syndrome of cerebellar ataxia, oligophrenia, and congenital cataracts has become known as the Marinesco-Sjogren syndrome. It is a very rare syndrome apparently inherited as an autosomal recessive trait. Other authors who have written papers on this syndrome are Richards,3 Garland and Moorhouse,4 Decock and Macken,5 Durusken,6 MacGillivray,7 Dogulu and Mutler,8 Dureaux, Cordier, Ziza and Tridon,9 Amyot,10 Franceschetti, Marty, and Klein,11 Muller,12 Alter, Talbert, and Croffead,13,14 and Prot.15 Francois16 states that aniridia with oligophrenia has been reported several times.
It is the purpose of this
GILLESPIE FD. Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings. Arch Ophthalmol. 1965;73(3):338-341. doi:10.1001/archopht.1965.00970030340008