Foveal hypoplasia has been described in association with aniridia, albinism, microphthalmia and achromatopsia. Isolated foveal hypoplasia unassociated with other ocular abnormalities has been rarely reported and is regarded as a rare condition. Authors experienced two cases of isolated foveal hypoplasia in the same family. A 30-year-old woman and her 3-year-old daughter presented with a complaint of poor visual acuity and nystagmus. Ophthalmoscopic examination of their both eyes revealed loss of foveal reflex, absence of macular luteal pigment, and abnormal distribution of retinal vessels at the posterior pole. No abnormal ocular findings other than lens opacity, high myopia, and large optic cup were found.
Adult ; Albinism ; Aniridia ; Cataract ; Child, Preschool ; Color Vision Defects ; Female ; Humans ; Microphthalmos ; Myopia ; Nuclear Family ; Reflex ; Retinal Vessels ; Visual Acuity