Familial foveal aplasia

Purpose Foveal aplasia, or hypoplasia, refers to the lack of foveal depression with continuity of all neurosensory layers in the presumed location of the fovea. Whilst it is has been reported in cases of aniridia, albinism, microphthalmia and achromatopsia, foveal hypoplasia as an isolated entity is a rare phenomenon. We describe the presentation of a child and her mother with subsequent discussion on the spectrum of the disease. Methods Case report and literary synthesis. Results A frustrated 16 year old girl was brought in by her mother for review following several attendances to opticians with best‐corrected visual acuity of 6/9 both eyes. Ophthalmic examination revealed bilateral subtle spoke like cataracts with a featureless macula. There was no nystagmus present. Optical coherence tomography demonstrated lack of a foveal pit without extrusion of the plexiform layers. There was appropriate outer segment lengthening with a widened outer nuclear layer. Although asymptomatic, examination of her mother demonstrated best corrected visual acuity of 6/7.5 both eyes, with foveal tomography confirming foveal aplasia. Conclusions Although foveal aplasia typically presents with other ocular pathology, and most often exhibits nystagmus with decreased visual acuity, the entity can exist in isolation and without nystagmus. Familial cases, and those with pre senile cataracts, have been associated with PAX 6 gene mutations and subsequent alterations in ocular morphogenesis.