Investigation of retinal nerve fiber layer thickness in patients with neurofibromatosis-1

Abstract

The results of our study suggest that RNFL thinning can be a helpful marker for the detection of OPGs in NF-1 patients. Larger studies with longitudinal data are required to confirm the role of OCT in the diagnosis and follow-up of these patients.

Spectral Domain Optical Coherence Tomography Evidence of Retinal Nerve Fiber Layer and Ganglion Cell Loss in Adult Patients With Neurofibromatosis Type 1

“…The only reports have been on children with NF1-associated OPG where Chang et al and Topcu-Yilmaz et al found decreased pRNFL thickness 8,9 and Avery et al 20 demonstrated that most children with OPG and decreased RNFL thickness had visual acuity loss. All three studies found that pRNFL thickness values were equivalent between children with NF1 (without OPG) and healthy control subjects.…”

“…3,24,25 This may explain the contrasting results regarding the thickness of RNFL and GCL-IPL in our study with respect to previous reports where thickness measurements between children with NF1 (and no OPG) and healthy controls were not significantly different. 8,9,20 Although generalized disease can have an important role in pathogenesis, the specific choroidal features and related retinal thickness aspects of NF1 also warrant consideration. In NF1, the choroid is altered because of the presence of characteristic nodules, 5,6,26,27 and reduction in mean choroidal thickness with generalized thinning of the neuroepithelium, photoreceptors together with the retinal pigment epithelium layer and the outer nuclear layer has been reported in adult patients.…”

“…All three studies found that pRNFL thickness values were equivalent between children with NF1 (without OPG) and healthy control subjects. 8,9,20 Given the nature of these studies and the patients assessed, reduced pRNFL was primarily attributed to optic nerve gliomas with retrograde alteration, reflected in pRNFL thinning.…”

“…2,3,7 Optical coherence tomography is a technology that can be used to study a wide array of retinal and optic nerve alterations. Chang et al 8 and Topcu-Yilmaz et al 9 showed decreased peripapillary retinal nerve fiber layer (pRNFL) in children with NF1 and optic nerve glioma and proposed evaluation of pRNFL thickness as a noninvasive testing method to detect early signs of OPG. Parrozzani et al 10 reported that retinal nerve fiber layer (RNFL) thickness has a significant sensitivity and positive predictive value in detecting OPG in children.…”

Modern Technologies in the Diagnosis of the Vision Organ Pathology in Patients With Neurofibromatosis Type I (Review of Literature)

“…6) компьютерная периметрия -скотомы и секторальные выпадения; 7) оптическая когерентная томография -истончение слоя нервных волокон [3, 24,40].…”