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Biomedical subjects

I H Maumenee

Publications and source records attributed to I H Maumenee.

129 records · Page 8Linked to original sources
PubMedDate not supplied

Ectopia lentis.

Ectopia lentis was first described more than 200 years ago, but its value as a significant diagnostic clue to the presence of other ocular and systemic disorders has only recently been appreciated. Ectopia lentis may cause a marked reduction in visual acuity, which varies with the type and degree of dislocation and the presence of other ocular abnormalities. An approach to the diagnostic evaluation of the patient with ectopia lentis is outlined. The differential diagnosis is reviewed in detail both clinically and histologically. The complications of ectopia lentis and the appropriate management of affected patients are discussed.

Adolescent↗
PubMedDate not supplied

The eye and the chromosome.

The first linkage of disease traits on the human X-chromosome was reported in 1937, and the first assignment of a human disease to an autosome was made 26 years later in 1963. Now, after only 19 years, there are at least 338 assignments to loci on the human chromosome map. This amazing expansion of information extends to eye diseases. In this review, basic mechanisms of mutation are discussed, and the basic methodologies used for gene assignments are explained. All of the eye-related, definite, autosomal assignments are presented. The diseases that have regional assignments on the X-chromosome are discussed, and the remaining X-linked eye diseases are listed in table form.

Child↗
PubMedDate not supplied

Extraocular muscle aplasia in Moebius syndrome.

A case of Moebius syndrome with bilateral aplasia of the medial and lateral recti is reported. The fibrous bands that replaced the medial recti were inserted posteriorly on the globe resulting in a restrictive large angle esotropia. Surgical intervention resulted in alignment in the primary position. The present case favors a primary mesodermal dysplasia of the extraocular musculature in Moebius syndrome.

Esotropia↗