Introduction

Foveal hypoplasia is defined as a developmental disorder of the macula with a relatively preserved neuroretina. The condition may cause reduced visual acuity and other coexisting ocular disorders. On ophthalmoscopic examination, macular reflexes in the eyes with foveal hypoplasia are either absent or diminished. Morphological changes in the fovea can be visualized by optical coherence tomography (OCT). Four grades of foveal hypoplasia have been distinguished. The aim of the study was to perform an ophthalmoscopic, imaging (OCT), and functional assessment of the retinal macula in children with foveal hypoplasia.

Material and methods

The study group consisted of eight pediatric patients (four boys and four girls), aged between 6 and 18 years, who were diagnosed with foveal hypoplasia. The children underwent ophthalmic examinations including the assessment of visual acuity and eye fundus, and macular OCT.

Results

Visual acuity was impaired in one or both eyes in seven children, ranging from the sense of light (in the eye with coexisting optic nerve pathologies) to 5/6. In the majority of children, macular reflexes were found to be absent or diminished either in one or both eyes. In all the patients, foveal hypoplasia was diagnosed on the basis of OCT findings and graded.

Conclusions

Abnormal ophthalmoscopic appearance of the macula, exhibiting anomalous light reflexes, is an indication for a more detailed diagnostic approach. Our studies show that unexplained reduced visual acuity with preserved macular reflexes also justifies performing a non-invasive OCT examination of the macula. Macular OCT imaging is necessary for making the diagnosis of foveal hypoplasia and grading the severity of the condition. Severe foveal hypoplasia reduces visual acuity and may impair other visual functions.