Atypical rubella retinopathy in a child with Noonan syndrome.

A 6-year-old mentally challenged male child with a history of intra-uterine growth restriction, congenital heart disease with patent ductus arteriosus, and microcephaly was brought to the hospital for an eye examination. He was a case of Noonan syndrome with ocular features suggestive of an atypical rubella retinopathy with pale discs in both the eyes [Fig. 1a-d]. Blood work-up during newborn intensive care unit hospitalization revealed a positive rubella IgG (10.3IU/ml) and negative IgM. The distinctive feature in our case is the extensive nature of the pigmentary retinopathy obscuring the normal course of the retinal vessels and the presence of multiple large subtle choroidal excavations as well as retinal pigment epithelium (RPE) atrophy. Only one case of retinopathy (a Coats-like disease) has been documented in a cohort of 105 cases with ophthalmic manifestations in Noonan syndrome.[1] Large choroidal excavation is a rare finding in a patient with rubella retinopathy.[2] We present a unique association of rubella retinopathy in a child of Noonan syndrome.

Figure 1

(a and c) Fundus photographs of the right and left eyes show pale discs and multiple large choroidal excavations with RPE atrophy. Note the obscuration of retinal vessels. (b) Magnified view of the right eye fundus showing an anomalous disc (with an optic pit-like appearance in the infero-nasal quadrant) (d). External photograph of the child depicting microcephaly, a short stature, a widened nasal bridge, apparently posteriorly rotated and low set ears, right eye – esotropia, and hypertropia

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