Four Common Eye Signs in Mongolism

Abstract

THE LITERATURE on mongolism is replete with marked differences in incidence of some of the more common eye findings associated with this condition. Few authors define or even partially describe the sign they are reporting, and fewer still explain the means by which the sign was measured. There is no doubt that different authors have used different criteria in reaching their conclusions, and therefore comparison between the results of one report and another is difficult. Furthermore, lack of definition produces confusion, and some signs may receive an emphasis conducive to misdiagnosis.In this study, four of the common eye findings in mongolism, easily determined without special instruments or training, are defined, the pertinent literature reviewed, and the incidence in institutionalized and noninstitutionalized patients with mongolism compared with normal controls. The signs are slanting eyes, epicanthic folds, Brushfield spots, and hypoplasia of the iris. As the frequency of Brushfield spots is related to eye color, the eye color of the institu¬ tionalized mongoloids and of the normal con¬ trol group was determined. For the sake of clarity, each eye finding is considered separately. SubjectsGroup I.-Examined were 138 institutional¬ ized mongoloids, 83 males and 55 females.Doubtful cases were excluded. The data were broken down by five-year age groups : 0 to < 5 years, 5 to < 10 years, 10 to <15 years, 15 to ,33, and 42 subjects in these age groups, respectively. Group II.-Because mongoloid children are rarely institutionalized under 5 years of age, and only four such patients were present in group I, the records of 78 noninstitutionalized mongol¬ oids, primarily examined by one of us (H. Z.), were reviewed and the data on slanting eyes, epicanthus, and Brushfield spots analyzed in asimilar manner and presented in the Table for comparison. There were 64 subjects under 5, and 14 between 5 and 10 years of age. The diag¬ nosis of mongolism was confirmed in most cases by chromosomal analysis.Group III.-Data on 150 "normal" subjects were obtained in a pediatrie out-patient depart¬ ment of a large university hospital. Fifteen males and 15 females were examined in each of the age groups outlined for group I. DefinitionsSlanting Eyes.-A clear plastic straight edge was placed across the bridge of the nose at the level of both inner canthi. The elevation of the outer canthi above this horizontal line was esti¬ mated, in millimeters, by one observer and re¬ corded. All measurements were carried out by the same observer. The use of a protractor in order to measure this slant in degrees was at¬ tempted, but this was found impractical. The position of the head was fixed to insure stand¬ ardization of measurement. The following four categories were defined:1. Straight: if the outer canthi were less than 2 mm above this line;2. Slanting (mongoloid) : if the outer canthi were more than 2 mm above this line ( Fig 1 ) ; 3. Antimongoloid : if the outer canthi were below this line;

Characteristic ocular findings in Asian children with Down syndrome

“…The overall incidence of ocular abnormalities in Korean children with DS (91%) was markedly higher than previously reported (Table 5). [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] This might be due to the preparation of a special examination sheet for DS documenting every reported ocular finding, slit-lamp biomicroscopy (before and after fluorescein instillation), cycloplegic refraction, and indirect ophthalmoscopic examination for every patient. The ocular findings in Korean children with DS are characterized as an unreported, high incidence of epiblepharon, the highest rate of exotropia and no cases of Brushfield spots.…”

“…The ocular findings in Korean children with DS are characterized as an unreported, high incidence of epiblepharon, the highest rate of exotropia and no cases of Brushfield spots. Although the ocular features of DS have been described in several studies (Table 4), [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] we could not find any reference to epiblepharon with DS in a computerized search utilizing Medline. It is surprising that epiblepharon has not been reported in other studies given the frequency in this study.…”

“…2 However, the prevalence of exotropia in the whole strabismus was 42%, in contrast with the data in all other reports, which range from 0% to 19% (Table 4). [2][3][4][5][6][7][8][9][10][11][12]16 Asians are known to have a higher prevalence of exotropia than Caucasians or Africans in a normal population. 19 Racial factors may play a role in this strikingly high incidence.…”

“…1 Numerous ophthalmic features have been reported, including abnormalities of the eyelid, cornea, iris, lens, retina, and optic disc, as well as ametropia, amblyopia, strabismus, and nystagmus. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] The incidence of each ocular abnormality varies in different studies. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] Most reported studies of ocular findings in DS have been performed in Caucasians.…”

“…[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] The incidence of each ocular abnormality varies in different studies. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] Most reported studies of ocular findings in DS have been performed in Caucasians. [2][3][4][5][6][7][8][9][10][11][12][13][14][15] There are only a few reports in the literature that make reference to ocular findings in Asian patients with DS.…”