Congenital Cataract in the Newborn: Report of an Early Diagnosis

Introduction: Congenital cataracts are a malformation of the lens that develop during the embryonic life. Its etiology can be explained by the presence of congenital infections, genetic alterations or other diseases manifested during gestation. The diagnosis should be early, for timely referral to Ophthalmology, being the treatment weighted case by case. Although treatment is decided on a case by case bases, surgical intervention is often required in the first months of life

Objective: We present a case of congenital cataract with early in utero diagnosis.

Case report: Mother, 30 years old, primiparous, past history of hypothyroidism (positive antibodies), medicated with levothyroxine. Pregnancy was non-complicated. Serological markers were negative. Five fetal ultrasounds were carried out. On the ultrasound performed at 30 1/7 weeks an opacity of the lens was identified raising the possibility of congenital cataract. This image was not present at last ultrasound (35 4/7 weeks). Delivery occurred at 41 weeks. APGAR 10/9/10. Measures at birth: weight 3680g (P85); length 51 cm (P50-85); head circumference 34 cm (P50). Physical examination was normal with the exception to the absence of red reflex in the left eye in D1 of life. An Ophthalmological evaluation as carried including echography that revealed left eye microphthalmia (15.9 mm) and poor and irregular dilatation, thus confirming the pre-natal diagnosis.

At 2 months of age, she maintains follow up visit in Neonatology and Ophthalmology. At the last visit, a total cataract with vascularized membrane was identified. Currently active surveillance is maintained and surgical intervention is delayed.

Discussion: Congenital cataracts, although rare, should be considered. A careful prenatal ultrasound study, complemented by the objective examination, namely with the evaluation of the red reflex, can lead to an early diagnosis. A possible association between maternal hypothyroidism, medicated during pregnancy and the occurrence of congenital cataract should be further clarified.