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
Eldridge R, Berlin CI, Money JW, McKusick VA. Cochlear Deafness, Myopia, and Intellectual Impairment in an Amish Family. Arch Otolaryngol. 1968;88(1):49–54. doi:10.1001/archotol.1968.00770010051010
Customize your JAMA Network experience by selecting one or more topics from the list below.