High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

Abstract

PurposeTo investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT).DesignProspective, cross-sectional, observational study.SubjectsA total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls.MethodsHigh-resolution SD OCT (Copernicus [Optopol Technology S.A., Zawiercie, Poland], 3 μm resolution) and handheld SD OCT (Bioptigen Inc [Research Triangle Park, NC], 2.6 μm resolution) devices were used to acquire horizontal scans through the center of the optic disc and macula.Main Outcome MeasuresHorizontal optic disc/cup and rim diameters, cup depth, peripapillary retinal nerve fiber layer (RNFL), and thickness of individual retinal layers in participants with ONH and in controls.ResultsPatients with ONH had significantly smaller discs (P < 0.03 and P < 0.001 compared with unaffected eye and healthy controls, respectively), horizontal cup diameter (P < 0.02 for both), and cup depth (P < 0.02 and P < 0.01, respectively). In the macula, significantly thinner RNFL (nasally), ganglion cell layer (GCL) (nasally and temporally), inner plexiform layer (IPL) (nasally), outer nuclear layer (ONL) (nasally), and inner segment (centrally and temporally) were found in patients with ONH compared with the control group (P < 0.05 for all comparisons). Continuation of significantly thicker GCL, IPL, and outer plexiform layer in the central retinal area (i.e., foveal hypoplasia) was found in more than 80% of patients with ONH. Clinically unaffected fellow eyes of patients with ONH showed mild features of underdevelopment. Visual acuity and presence of septo-optic dysplasia were associated with changes in GCL and IPL. Sensitivity and specificity for the detection of ONH based on disc and retinal optical coherence tomography (OCT) parameters were >80%.ConclusionsOur study provides evidence of retinal changes in ONH. In addition to thinning of retina layers mainly involving the RNFL and GCL, signs reminiscent of foveal hypoplasia were observed in patients with ONH. Optic nerve and foveal parameters measured using OCT showed high sensitivity and specificity for detecting ONH, demonstrating their useful for clinical diagnosis.

Pattern of Retinal Nerve Fiber Layer Thickness Loss in Fetal Alcohol Syndrome: A Spectral-Domain Optical Coherence Tomography Analysis

“…As subnormal optic disc areas may be undetectable by fundus photography, OCT analysis is essential in the evaluation of optic disc hypoplasia associated with FAS. 21 Pilat et al showed that peripapillary RNFL thickness was homogeneously reduced in patients with optic disc hypoplasia. 21 Our results showed that although RNFL thickness was reduced in FAS patients, this reduction was not homogeneous in the whole peripapillary area.…”

“…21 Pilat et al showed that peripapillary RNFL thickness was homogeneously reduced in patients with optic disc hypoplasia. 21 Our results showed that although RNFL thickness was reduced in FAS patients, this reduction was not homogeneous in the whole peripapillary area. Sectorial analysis of the peripapillary RNFL per quadrants showed statistical significant differences in the inferior, superior and nasal quadrants, but not in the temporal quadrant.…”

“…Recently, in a prospective comparative study using spectral domainoptical coherence tomography (SD-OCT), Pilat el al found that this imaging technique was very useful in optic disc hypoplasia diagnosis. 21 This work was designed to determine if SD-OCT detects the optic disc morphology changes present in FAS patients and to measure the peripapillary retinal nerve fiber layer (RNFL) thickness, in order to establish the presence and the pattern of axonal loss.…”

Rule Out Normal Tension Glaucoma in a Young Woman

“…The majority of patients have bilateral involvement. Close examination of the optic nerves typically reveal a "double-ring" sign where the inner ring corresponds to the hypoplastic nerve and the outer ring corresponds to the junction between the sclera and lamina cribrosa [1]. Superior segmental optic nerve hypoplasia (SSOH) is a subcategory of optic nerve hypoplasia and is also known as "topless disc syndrome. "…”

Pediatric Optical Coherence Tomography in Clinical Practice—Recent Progress

“…In addition to significantly smaller discs, horizontal cup diameters, and cup depths, some interesting and novel alterations in macular morphology have been characterized, including foveal hypoplasia and thinning of the RNFL, GCL, IPL, ONL, and IS. 95 Optical coherence tomography also can detect RNFL loss from optic atrophy occurring secondary to optic pathway glioma in older children affected by neurofibromatosis type 1. 96 In addition, the potential of the HH-SDOCT to monitor progressive optic neuropathies such as optic nerve glioma in infants and young children unable to cooperate with traditional OCT testing devices has been established.…”