Clinical Ocular Abnormalities in Infants With Trisomy 13
Presented in part at the American Association for Pediatric Ophthalmology and Strabismus annual meeting, Orlando, Florida, March 2005.
Accepted 22 December 2005. published online 03 February 2006.
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.
Departments of Ophthalmology and Visual Sciences and Pediatrics, St Louis Children’s Hospital, Washington University School of Medicine, St Louis, Missouri
Inquiries to: Gregg T. Lueder, MD, St Louis Children’s Hospital, Room 2s89, Washington University School of Medicine, One Children’s Place, St Louis, MO 63110
ABSTRACT