Isolated foveal hypoplasia: a case report

Foveal hypoplasia is a retinal disorder in which the foveal pit of the macula lutea is incompletely developed and is characterized by nystagmus and low visual acuity. It can manifest itself in isolation, without a clear etiology, or associated with other conditions such as albinism, aniridia, Stickler Syndrome, optic nerve hypoplasia, microphtalmus, etc. Modern retinal imaging technologies are key to diagnosis of this rare retinal disorder. We present a case of a 19-year-old woman with poor distance and near vision and nystagmus since childhood, without other associated diseases. Visual acuity was 0.5 Snellen decimal units in both eyes, with present latent nystagmus. The anterior segment was normal, while an absent foveal reflex was found on fundus examination. Optical coherence tomography (OCT) imaging confirmed the absence of foveal depression in the macular area. OCT-angiography (OCTA) was performed, which confirmed the absence of a foveal avascular zone in the macula. According to the proposed grading system parameters for foveal hypoplasia, this case corresponds with the most severe (grade 4) degree of foveal hypoplasia. Foveal hypoplasia can be associated with numerous etiological factors, and visual acuity can vary depending on the development of foveal photoreceptors and structural gradation. For this reason, especially in children with reduced visual acuity of unknown etiology and the existence of nystagmus, it is recommended to perform additional examinations and use multimodal imaging techniques (OCT and OCTA) in order to make a timely and accurate diagnosis. Management of this disorder includes treatment of the associated ocular and systemic conditions, refractive correction, treatment of amblyopia and use of low vision aids