Characteristic deviations of the optic disc and macula in optic nerve hypoplasia based on OCT.

Purpose: The purpose of this study was to evaluate the optic disc and macula in a large cohort of patients with different severity of optic nerve hypoplasia (ONH) using high-resolution spectral domain optical coherence tomography (SD-OCT).

Methods: In total, 36 patients (52 ONH eyes and 17 fellow eyes in unilateral cases) and 45 healthy right eyes from 45 controls were evaluated. All patients underwent an examination to confirm the diagnosis. SD-OCT images of the disc and macula were obtained and analysed both quantitatively and qualitatively.

Results: OCT in ONH eyes demonstrated a shorter disc diameter (1061 ± 375 μm vs. 1751 ± 221 μm, p < 0.001), shallower mean cup depth (427 ± 171 μm vs. 551 ± 152 μm, p = 0.01), thinner ganglion cell complex (GCC) perifoveally (47.3 ± 13.0 μm, 60.8 ± 6.0 μm, p < 0.001) and reduced foveal depth (61 ± 36 μm, 119 ± 19 μm, p < 0.001) compared to control eyes. Qualitative analysis showed that 1/3rd of ONH eyes lacked signs of an optic cup, and 2/3rd had reduced or no sign of a foveal pit. Fellow eyes had shorter disc diameter (1446 ± 404 μm vs. 1751 ± 221 μm, p = 0.004) and reduced foveal depth (93 ± 27 μm vs. 119 ± 19 μm, p < 0.001) but similar GCC thickness (60.8 ± 7.1 μm vs. 60.8 ± 6.0 μm, p = 0.738) compared to controls. Disc diameter showed the best correlation with visual acuity in ONH eyes (ρ = 0.517, p < 0.001).

Conclusion: ONH eyes have reduced GCC thickness and reduced or no foveal pit. Fellow eyes in presumed unilateral cases have a smaller disc diameter and reduced foveal depth compared to controls, suggesting the possibility of subclinical/mild disease. However, GCC thickness was normal. The correlation between structure and visual function is not always straightforward.