Fovea plana is a congenital condition characterized by anatomic absence of the foveal pit. It may be isolated or associated with congenital ocular anomalies. In this report, we present a case of fovea plana associated with situs inversus of the optic disc, optic disc hypoplasia, tilted optic disc, and prepapillary vascular loop and with best corrected visual acuity of 20/32. The aim of this report is to demonstrate the coexistence of very rare multiple optic disc anomalies and fovea plana, and also to emphasize that the use of multimodal imaging methods facilitates the identification of rare anomalies.

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain. The phenotype of SOD is highly heterogeneous, and the existence of at least two features is considered sufficient for diagnosis. Fovea plana is the absence of a foveal pit in the central fovea, and despite being a developmental abnormality of the fovea, good visual acuity may be retained in some individuals. In this case, a 12-year-old female presented to the ophthalmology clinic with the complaint of blurred vision in her right eye. In dilated fundus examination, optic disc hypoplasia and no foveal light reflex were seen. Magnetic resonance imaging and optical coherence tomography revealed optic nerve, brain midline, and foveal abnormalities. The patient was diagnosed as having SOD with optic nerve hypoplasia and septum pellucidum agenesis, and fovea plana. Both SOD and fovea plana are rare conditions, and there are several reports in the literature that separately describe their clinical features. The most important aspect of this case report is to reveal the unusual co-existence of SOD and fovea plana in a young patient.

We report the case of a 12-year-old boy with fovea plana discovered on a systematic work-up. His best-corrected visual acuity was limited to 20/25 in both eyes. Anterior segment examination showed no evidence of iris transillumination or aniridia. Macular OCT revealed persistence of the inner nuclear layers in the foveolar area and an absence of foveal pits, suggesting a diagnosis of fovea plana. Fluorescein angiography revealed that the foveal avascular zone (FAZ) was absent. OCT angiography revealed persistence of the superficial and deep capillary plexi. Our case confirms that OCT angiography affords additional insights into macular exploration and the diagnosis of fovea plana by revealing absence of the foveal pit associated with persistence of both superficial and deep capillary plexi in the foveal area.