[Skip to Navigation]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address Please contact the publisher to request reinstatement.
July 1968

Cochlear Deafness, Myopia, and Intellectual Impairment in an Amish Family

Author Affiliations

From the Division of Medical Genetics, Department of Medicine (Drs. Eldridge and McKusick), Department of Psychiatry (Dr. Money) and Department of Otolaryngology (Dr. Berlin), Johns Hopkins University School of Medicine, Baltimore. Dr. Eldridge is now at the National Institute of Neurological Diseases and Blindness, National Institutes of Health, Bethesda, Md. Dr. Berlin is now at the Louisiana University School of Medicine, New Orleans.

Arch Otolaryngol. 1968;88(1):49-54. doi:10.1001/archotol.1968.00770010051010

AMONG the advantages which may accrue from study of isolate populations is the delineation of previously unrecognized hereditary disorders, particularly those which are recessive. Because of their high level of inbreeding and their large families, study of Amish communities has disclosed a number of previously unknown entities. These include a form of dwarfism,1 a disorder of bile excretion,2 a syndrome of severe mental retardation, microphthalmos, and hypopigmentation,3 and several neurologic disorders.4,5 Also, the malformation affecting the female genito-urinary tract termed hydrometrocolpos has been shown to have a simple genetic basis in some instances.6

In a survey of the mentally retarded among the Amish of Lancaster County, Pa, several "new" genetically distinct disorders have been uncovered.7 This report described four sibs affected with a syndrome consisting of cochlear deafness, myopia, and intellectual impairment.

Materials and Methods  The case family was ascertained through Amish sources and