The Fundus in Mongolism

Abstract

• The fundus in 63 eyes of 32 karyotyped patients with mongolism (Down syndrome) was examined by indirect ophthalmoscopy. Common features included a rosy disc associated with a greater than normal number of retinal blood vessels, a generalized attenuation of fundus pigmentation regardless of iris coloration, peripapillary and patchy peripheral areas of pigment epithelial atrophy, and choroidal vascular "sclerosis." These findings are believed to be suggestive but not pathognomonic of mongolism.Eleven eyes of six additional patients were found to have retinal detachment. Eight of these were due to a retinal dialysis and only two could be surgically reattached. Trauma was thought to be an important predisposing factor. Several suggestions for prevention and early diagnosis of this complication are briefly presented.