To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia.

The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed.

There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean follow-up period of 9.7 ± 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last follow-up (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 ± 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 ± 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%).

Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.