Ocular findings in partial trisomy 10q syndrome

We examined three siblings with partial trisomy 10q born to a mother carrying a balanced translocation between chromosomes 4 and 10. Our patients had many of the phenotypic abnormalities characteristic of this syndrome, and their chromosomal abnormality was confirmed by karyotypes of peripheral blood lymphocytes. Two ophthalmoscopic abnormalities not previously reported in this syndrome were noted in our patients. One child had bilateral enlarged, gray optic disks with elevated, blurred margins and distended retinal vessels. Another child had bilateral punctate yellow deposits scattered around the macula and optic disk.