Comparison of Cirrus spectral domain OCT with disc–macula distance to disc diameter ratio in diagnosing congenital optic nerve hypoplasia

Abstract

AbstractPurposeDiagnosis of congenital optic nerve hypoplasia (CONH) can be challenging in children or uncooperative individuals. Misdiagnosis can lead to inappropriate treatment; thus, it is important to identify an objective and reliable measurement. The purpose of this study was to evaluate whether Cirrus spectral domain optical coherence tomography (SD‐OCT) is a valid test for diagnosing CONH by comparing it to the disc–macula distance to disc diameter (DM:DD) ratio.MethodsA total of 93 participants (64 controls and 29 CONH) underwent comprehensive eye examinations, fundus photography and Cirrus SD‐OCT. Receiver operating characteristic (ROC) curves for the DM:DD ratio and OCT disc area were constructed for CONH and control eyes.ResultsMean (±SD) OCT disc area was 1.46 (±0.42) mm2 and 1.89 (±0.38) mm2 for CONH and control eyes, respectively (p < 0.0001). The area under the curve for the DM:DD ratio was 0.97 (95% confidence interval: 0.91–0.99) and 0.79 for OCT disc area (95% confidence interval: 0.70–0.86), which were significantly different (p = 0.0005). The optimal cut‐off value for OCT disc area was 1.66 mm2 (76% sensitivity, 70% specificity), while the optimal cut‐off for DM:DD ratio was 3.10 (85% sensitivity and 95% specificity). The Cirrus SD‐OCT showed a tendency to overestimate disc size, especially in cases with no light perception (NLP) or segmental CONH.ConclusionsAlthough the DM:DD ratio is superior to OCT in diagnosing CONH with a higher sensitivity and specificity, the ratio is subject to inter‐examiner variability and can be challenging to obtain. We found the Cirrus SD‐OCT to be a valid objective test for diagnosing CONH. Caution is advised when using SD‐OCT in segmental CONH or in an eye with NLP. We suggest 1.66 mm2 as the optimal cut‐off value for Cirrus SD‐OCT disc area to differentiate a hypoplastic from a normal optic disc.