OCULAR CHANGES IN MONGOLISM

There is no one sign that is diagnostic or pathognomonic of Down’s syndrome; however, as a well-known popular song expresses it-“little things mean a lot.” The ocular signs in Down’s syndrome are among the most important, constituting at least a fifth of aster's 1 ten cardinal signs. The diagnosis of Down’s syndrome is made through a constellation of clinical features. Since a large portion of the major diagnostic signs in this syndrome are localized to the face and hands, the ophthalmologist rarely has difficulty in establishing the diagnosis. Of paramount importance to this specialist are the ocular manifestations of the syndrome, among which the following shall be discussed: (1) congenital and acquired cataract; (2) keratoconus and corneal opacities; (3) iris stroma and color aberrations; ( 4 ) errors of refraction; ( 5 ) muscle imbalance; (6) configuration changes of the eyelids and palpebral fissure; (7) ocular infections: (8) radiological anomalies of the orbit, and (9) miscellaneous findings. Before undertaking a discussion of the above, it must be emphasized that no matter how meticulous an examiner may be, one sees that of which he is aware and prepared by training to anticipate. Varying incidences of the numerous signs thus may be dependent as much on the examiner as well as reflecting individual variation in the affected patients. The majority of individuals studying ocular manifestations have limited their scope to ascertaining the incidence of certain specific traits. I t must be emphasized that all of the ocular changes found in Down’s syndrome may also be found in lower incidence in the eyes of the normal population, many of which are gene-influenced.