Macular thinning associated with unilateral optic nerve hypoplasia

The authors present the case of an 8-year-old boy with a long-term diagnosis of unilateral optic nerve hypoplasia (ONH) of unknown cause in the right eye. Spectral-domain optical coherence tomography (SD-OCT) of the central macula was consistent with hypoplasia greatest in the inner retinal layers, but also involving the outer retinal layers when compared with the unaffected contralateral eye. Although ONH is commonly associated with hypoplasia of the nerve fiber and ganglion cell layers, it can also be associated with hypoplasia of other layers in the inner and outer retina, including the outer nuclear and photoreceptor inner/outer segment layers, as evidenced by SD-OCT.