Clinical Ocular Abnormalities in Infants With Trisomy 13

Purpose: Previous reports of ocular abnormalities associated with trisomy 13 have described pathologic abnormalities, with minimal descriptions of clinical findings. This report describes the clinical findings in four infants with trisomy 13. Design: Retrospective noncomparative case series. Methods: Review of medical records of four infants with trisomy 13. One patient underwent cataract surgery and treatment of Coats disease. Results: All four infants had inferonasal iris colobomas with unilateral inferonasal cataracts, primarily involving the posterior lens surface. Two patients had pigmented tissue associated with the cataracts. Cataract surgery was performed in one of the patients with good results. This patient also developed a unilateral exudative retinal detachment with peripheral telangiectatic vessels. This resolved after treatment with cryotherapy. Conclusions: The cataracts in these infants with trisomy 13 had similar clinical features, which were different than those seen in other types of cataracts in infants. In addition, one patient had Coats disease, which has not been previously described in association with trisomy 13. The presence of inferonasal iris colobomas and adjacent sectoral cataracts in patients with other dysmorphic findings should prompt chromosomal analysis for trisomy 13.