Isolated foveal hypoplasia - A rare case report

Objectives: The objective is to present the case of a male child with isolated foveal hypoplasia. Material and Methods: A 3.5-month-old male child with an inability of visual fixation was referred by a pediatrician for ophthalmological examination. There was nystagmus. Dilated fundus examination revealed a dull foveal reflex. Electroretinography and VEP (visual evoked potential) were abnormal. However, no familial association was established. On follow-up at 4 years, he was detected for moderate visual impairment with high hyperopia. Fundus examination showed the macular and foveal reflexes to be absent, and the retinal capillaries were abnormally close to the presumed foveolar area. After 9 years of follow-up, fundus reflexes appear as before. OCT (optical coherence tomography) showed the absence of foveolar depression and reduced retinal thickness, diagnosing it to be isolated foveal hypoplasia. The child is otherwise healthy and performing well in school, similar to other children of his age. Results: Following a complete ophthalmological examination and a long follow-up, the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient was established. Conclusion: With this report, we want to highlight the roles of electrophysiology, fundus photography, and OCT in the diagnosis of a rare condition like isolated foveal hypoplasia.