Author(s): Ahmadi H, Bradfield YS. Chorioretinopathy and microcephaly with normal development. Ophthalmic Genet. 2007 Dec;28(4):210-5. PMID 18161621
Journal: Ophthalmic Genetics, Volume 28, Issue 4, Dec 2007
PURPOSE To report a pediatric patient with bilateral chorioretinopathy and microcephaly who from birth to 2 years of age is reaching appropriate developmental milestones.
DESIGN Retrospective case report with clinical findings and literature review.
MAIN OUTCOME MEASURES Clinical findings and visual acuity estimated by sweep visual evoked potentials (VEP), electroretinogram (ERG) and fundoscopic exam.
RESULTS A microcephalic child with normal motor and cognitive development had improving sweep VEP despite atypical fundoscopic findings of bilateral chorioretinopathy, attenuated retinal vessels, and anomalous optic nerves. The etiology for these collective findings despite extensive workup, including prenatal TORCH titers and neuro-imaging, has remained unidentified.
CONCLUSIONS Most published cases of microcephaly with chorioretinopathy have described patients with mild to severe mental retardation. Patients with chorioretinopathy and microcephaly may, however, reach all developmental milestones with improvement in visual development as was seen in this case. The long-term cognitive and visual prognosis may be better than previously reported.