Macular coloboma is a rare eye condition that affects around 0.5-0.7/10,000 of live births. Macular coloboma appears as a well-demarcated atrophic lesions that could affect one eye or both eyes on fundus examination. This is a case of a 33-year-old male patient who presented to the outpatient clinic with a history of poor vision in the left eye since childhood. He had a history of strabismus surgery for sensory exotropia (XT) in the left eye. Anterior segment examination of both eyes was normal while the fundus examination of both eyes revealed bilateral chorioretinal lesions in the macula which was larger in the left eye (OS) than the right eye (OD), representing bilateral chorioretinal coloboma. Congenital coloboma is a rare eye condition that leads to non-progressive decrease in visual acuity. Optical coherence tomography (OCT) is the modality of choice in diagnosing and describing macular coloboma.

BACKGROUND: As the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown. We present the first known case of congenital Zika syndrome seen at our institution with significant fundus findings.
METHODS: A 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. Her mother had traveled to Honduras early in pregnancy and testing of amniotic fluid was positive for Zika virus via polymerase chain reaction. A dilated fundus examination was significant for bilateral severe colobomatous chorioretinal atrophy of the macula and pigmentary changes. Neonatal magnetic resonance imaging revealed diffuse lissencephaly with decreased brain volume, atrophic corpus callosum and brainstem, periventricular calcifications, and ventriculomegaly of the lateral ventricles.
CONCLUSIONS: Our patient, who presented with the first known case of congenital Zika syndrome in Northern Florida, demonstrated profound bilateral colobomatous chorioretinal atrophy of the macula. The ophthalmologic findings along with severe microcephaly emphasize the neurotropism of the Zika virus, and ultimately are indicative of poor developmental and visual prognosis for affected infants. With the increased prevalence of Zika virus, ophthalmologists should be aware of the associated findings and the importance of an eye-screening examination with a dilated fundus examination within 1 month of life of infants in which congenital Zika syndrome is suspected. A multidisciplinary care approach is essential for the care of affected infants and their families.

Macular coloboma is a congenital condition characterized by failure of closure of the fetal intraocular fissure which may have a hereditary origin. Clinically, it is characterized by decreased visual acuity with macular excavated lesion characterized by missing or rudimentary retinal tissue and scleral ectasia. Macular OCT strongly supports the diagnosis and electrophysiology examination, if requested, is altered. Differential diagnosis includes pathologies causing atrophic and excavated macular lesion, in particular congenital toxoplasmosis.