Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography

Abstract

ObjectiveTo investigate (1) the feasibility of scanning the optic nerve (ON) and central retina with hand-held optical coherence tomography (HH-OCT) without sedation or anaesthesia in primary congenital glaucoma (PCG), (2) the characteristics of ON changes in comparison with adult primary open-angle glaucoma (POAG) in comparison with matched controls, (3) the sensitivity and specificity of ON parameters for diagnosis, and (4) changes of foveal morphology.Methods and analysisHH-OCT (Envisu 2300; Leica Microsystems) was used to investigate ON and foveal morphology of 20 children with PCG (mean age 4.64±2.79) and 10 adult patients with POAG (mean age 66.8±6.94), and compared with age-matched, gender-matched and ethnicity-matched healthy controls without sedation or anaesthesia.ResultsHH-OCT yielded useful data in 20 out of 24 young children with PCG. Patients with PCG had significantly deeper cup changes than patients with POAG (vs respective age-matched controls, p=0.014). ON changes in PCG are characterised by significant increase in cup depth (165%), increased cup diameter (159%) and reduction in rim area (36.4%) as compared with controls with high sensitivity (81.5, 74.1% and 88.9%, respectively) and specificity (85.0, 80.0% and 75.0%, respectively). Patients with PCG have a significantly smaller width of the macula pit (p<0.001) with non-detectable external limiting membrane.ConclusionHH-OCT has the potential to be a useful tool in glaucoma management for young children. We have demonstrated the use of HH-OCT in confirming a diagnosis of glaucoma within the studied cohort and found changes in disc morphology which characterise differently in PCG from POAG.

The Paediatric Glaucoma Diagnostic Ability of Optical Coherence Tomography: A Comparison of Macular Segmentation and Peripapillary Retinal Nerve Fibre Layer Thickness

“…Generally, the diagnosis is confirmed based on clinically assessed parameters such as IOP, ONH morphology, changes to the cornea, and, if possible, functional (e.g., perimetric) tests [ 25 ]. The availability and reliability of these parameters often depend on the patient’s cooperation [ 27 ]. Reliable SD-OCT measurements also require the patient’s compliance and can therefore be difficult to obtain from young children.…”

Changes of Peripapillary Retinal Nerve Fiber Layer in Childhood Glaucoma: A Systematic Review and Meta-Analysis

“…Our focus should be especially on cup depth and morphology of lamina cribrosa testing RNFL thinning by SD-OCT in pediatric patients. Some of the included studies elucidated the stage of glaucoma (25,26) and others were not (27)(28)(29)(30)(31)(32)(33), which may influence our metaanalysis of RNFL thickness. These could explain the high degree of statistical heterogeneity between the studies in the metaanalysis.…”

“…Some researchers have reported the thinning of average pRNFL thickness in all sectors between pediatric glaucoma and controls (25)(26)(27)(28)(29)(30). However, other studies have found that children with glaucoma and normal participants have comparable pRNFL thickness in some regions such as the temporal, nasal, and inferior nasal quadrants (31)(32)(33)(34). Thus, the possible association of each sector between pRNFL thickness and childhood glaucoma remains unclear, which justifies the need for more studies on this issue.…”

Updates on the molecular genetics of primary congenital glaucoma (Review)

“…Due to the limited cooperativeness of children, no obvious symptoms may be detected at the early stage and examination equipment is mainly designed for adults; missed or delayed diagnosis or misdiagnosis are therefore common ( 15 ). Patients with PCG always have an abnormal structure of the trabecular meshwork (TM) and anterior chamber angle, and they present with an increase of the intraocular pressure and a further extension of sclera, optic nerve and associated structures.…”