This paper describes the clinical and pathologic findings in the eyes of a patient with 13-15 trisomy. These findings are compared with those previously reported with this syndrome. Fourteen patients have been described in the literature.1-14 Twelve1-11 showed ocular anomalies, but the findings were described in adequate detail in only ten.1-9 Although the incidence of ocular defects is high, apparently none is sufficiently consistent to be characteristic.
The trisomy 13-15 syndrome results from the presence of an extra autosomal chromosome of the 13-15, or D group.15,16 Some or all of the following congenital anomalies are present. These are mental retardation, deafness, heart defects, hemangiomata, cleft lip, cleft palate, motor seizures, low-set ears, polydactyly, horizontal palmer creases, and ocular defects. Two other autosomal trisomies, which have been recognized, are the 17-18 trisomy and the 21 trisomy (mongolism). Each has its own rather characteristic associated clinical syndrome. Ocular
YANOFF M, FRAYER WC, SCHEIE HG. Ocular Findings in a Patient With 13-15 Trisomy. Arch Ophthalmol. 1963;70(3):372-375. doi:10.1001/archopht.1963.00960050374018