Journal
EYE
Volume 19, Issue 1, Pages 29-34Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.eye.6701408
Keywords
congenital heart disease; congenital ptosis; congenital cataract; optic nerve hypoplasia; retinal vascular tortuosity; tetralogy of Fallot
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Purpose To describe the ocular findings in subjects with congenital heart disease (CHD). Methods In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. Results The commonest anatomic cardiac anomalies were ventricular or atrial septal defects ( 62), tetralogy of Fallot ( 39), pulmonary stenosis ( 25), and transposition of the great arteries ( 24). The heart lesions were divided physiologically into volume overload ( 90), cyanotic ( 87), and obstructive ( 63). In all, 105 syndromic subjects included the velocardiofacial syndrome ( 18), Down's syndrome ( 17), CHARGE association ( 6), DiGeorge syndrome ( 5), Williams syndrome ( 3), Edwards syndrome ( 3), Noonan syndrome ( 3), VACTERL association ( 2), and Patau syndrome ( trisomy 13) ( 2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% ( 132) and included retinal vascular tortuosity ( 46), optic disc hypoplasia ( 30), trichomegaly ( 15), congenital ptosis ( 12), strabismus ( 11), retinal haemorrhages ( 8), prominent eyes ( 7), and congenital cataract ( 6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit ( P = 0.000) and a low arterial oxygen saturation ( P = 0.002). Conclusions Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.
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