Decrease In Retinal Nerve Fiber Layer Research Articles

7219 Ocular Findings in Jansen Metaphyseal Chondrodysplasia

Abstract Disclosure: F. Obiezu: None. K. Pan: None. A. Ninan: None. K.L. Roszko: None. L.S. Weinstein: None. C.R. Ferreira: None. R.I. Gafni: None. T. Magone De Quadros Costa: None. M.T. Collins: None. S. Jha: None. Jansen Metaphyseal Chondrodysplasia (JMC) is an ultra-rare disorder, with only 30 patients estimated to have the disease globally. It is caused by heterozygous pathogenic variants in PTHR1 that result in constitutive activation of parathyroid hormone type 1 receptor (PTHR1) signaling. A detailed description of craniofacial manifestations of the disease is lacking. Here we characterize the ophthalmological manifestations in patients with JMC. Six patients (4 males, 67%) with genetically confirmed JMC underwent a detailed ophthalmological evaluation, spectral-domain optical coherence tomography (OCT), craniofacial CT and 18F-NaF PET/CT scans. Median age at the time of the visit was 27.5 [IQR: 29] years. On physical examination, all patients were noted to have widely spaced eyes; 5 of the 6 had down slanted palpebral fissures, proptosis, or ptosis. Two patients had incomplete or defective closure of the eyelids (lagophthalmos), of which one had a history of progressive right facial nerve palsy with profuse epiphora. The second patient had central visual field defects, bilateral moderate optic disc pallor and bilateral retinal nerve fiber layer (RNFL) atrophy on OCT exam with bilateral optic canal narrowing on CT. Notably, comparison of these findings with a prior scan performed 5 years earlier showed progressive decrease in RNFL bilaterally. This patient had a history of prolonged intravenous bisphosphonate therapy, initiated in infancy for hypercalcemia and continued for over a decade. A third patient had normal vision, subtle temporal pallor of the optic nerve heads on dilated fundus exam, normal average RNFL, but decreased retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4 of the 6 patients compared to age-matched reference range indicating a chronic optic nerve atrophic process. These data represent the first comprehensive report of the ophthalmologic findings in a cohort of patients with JMC. They demonstrate that patients with JMC have significant eye findings that appear to be more prevalent and pronounced with age. This suggests age-related, progressive optic neuropathy, which can be assessed by demonstrating OCT retinal GCA and RNFL loss and, may be a feature of JMC. The benefit and effect of long-term bisphosphonate therapy in patients with JMC remains unclear. Patients with JMC should undergo regular ophthalmologic examination including optic nerve OCT, visual field testing, and craniofacial imaging. Presentation: 6/1/2024

Facteurs pronostiques des gliomes des voies optiques associés à la neurofibromatose de type 1 chez les enfants

Optic pathway glioma (OPG) is a classic complication of neurofibromatosis type 1 (NF1) and can impair visual function in children with this condition. The objective of this study is to describe clinical, paraclinical and prognostic characteristics of OPG associated with NF1. In this retrospective observational study of children followed for OPG associated with NF1 in a University Hospital, we analyzed the ophthalmological examination, brain and orbital imaging, management and the presence of associated endocrinopathy. We examined 114 children with NF1, of which 26 (22.81%) presented with OPG. Mean ages at diagnosis of NF1 and OPG were 3.83 years and 6.23 years, respectively. Mean visual acuity was 20/24.4 for the worse eye and 20/23.1 for the better eye. The RNFL (retinal nerve fiber layer) was thinner in subjects than in age-matched controls (p <0.0001). Retrochiasmal location of the OPG (DodgeC) was associated with lower binocular visual acuity than other locations and <20/32 (p=0.028); 28.03% of OPG (5 girls and 1 boy) were treated with chemotherapy, and the others were monitored; 19.23% had an associated endocrinopathy. OPG complicates 22.81% of NF1 cases in our series. Our study shows that retrochiasmal location of the glioma and female sex are poor prognostic factors. It also highlights the important role of OCT, since a decrease in RNFL is statistically associated with the presence of an OPG.

Prospective study to evaluate incidence and indicators for early detection of ethambutol toxicity

AimsTo evaluate incidence of toxic optic neuropathy in patients receiving ethambutol (EMB) for 6 months and to identify its early indicators.MethodsWe included 50 patients on anti-tubercular therapy (ATT) including EMB...

Effects of chronic methamphetamine abuse on the retinal nerve fiber layer, ganglion cell layer and Bruch’s membrane opening minimum rim width

BackgroundMethamphetamine (Meth) is a highly addictive and hallucinogenic agent which is used as the second most common illicit drug globally. Meth could affect the retina and optic nerve by inducing the release of vasoconstrictive agents such as endothelin 1 and induction of severe oxidative stress with accumulation of reactive oxygen species. AimTo evaluate the effects of chronic Meth abuse on the retinal nerve fiber layer (RNFL), ganglion cell layer (GCL) and the Bruch’s membrane opening minimum rim width (MRW). MethodIn this case-control study, we recruited 55 Meth abusers and 49 healthy individuals with mean age of 44.63 ± 0.97 and 43.08 ± 0.91 years, respectively. RNFL thickness, GCL thickness and MRW were evaluated using optical coherence tomography. ResultsWe found statistically significant decrease in RNFL, MRW thickness in Meth abusers (P: 0.002 and P: 0.006, respectively). We did not detect statistically significant difference regarding GCL thickness between the groups (P = 0.320). Our results showed a weak but statistically significant correlation of Meth dose increment and decrement of RNFL thickness ((P: 0.005, r = -0.193) and MRW (P: 0.013, r = -0.174). We found no correlation between duration of Meth consumption with RNFL and MRW thickness (P: 0.205, r= -0.124; P: 0.771, r= -0.029, respectively). ConclusionWe found a statistically significant adverse association in meth abusers with RNFL thickness and MRW. These two parameters were also statistically associated with the meth dose as measured by daily dose of Meth. Although we found a decrease in the GCL thickness, it did not reach statistical significance.

Alterations in optical coherence tomography angiography findings in patients with high myopia.

The aim of this study was to determine the macular changes using optical coherence tomography (OCT) and OCT-angiography (OCT-A) in eyes with high myopia. Determining the alterations in vascular structures can provide a clearer understanding of the pathophysiological mechanisms of this disease and help define new treatment options and preventive measures. Ninety-two patients with high myopia (axial length ≥ 26 mm) and 70 control cases without any known systemic or ocular diseases were enrolled in this prospective study. One eye of each patient was included in the statistical analyses. Retinal nerve fiber layer (RNFL) thickness and Early Treatment Diabetic Retinopathy Study (ETDRS) macula map values were lower in myopia compared with the controls. Both superior and inferior ganglion cell complex (GCC) thicknesses were significantly thinner in the high myopia compared with the controls (p < 0.001). Regarding the OCT-A findings, although superficial or deep foveal avascular zones (FAZ) did not significantly differ between the two groups, the density values of superficial and deep microvessels were significantly lower in the high myopia group compared with the control cases. In patients with high myopia, with an increase in the axial length and a decrease in RNFL and GCC thicknesses, the vascular densities of the superficial and deep retina were reduced in the macular region.

Quantitative visual tests after poorly recovered optic neuritis due to multiple sclerosis

BackgroundVisual dysfunction in MS can be quantified using a variety of tests. Many vision tests have not been formally evaluated among MS patients with existing visual dysfunction. ObjectiveEvaluate several versions of visual acuity and contrast sensitivity tests, measures of central and peripheral vision, retina structure, electrophysiologic function, and quality of life among MS patients with moderate/severe visual dysfunction. MethodsCross-sectional study of 46 patients with stable, incompletely recovered optic neuritis. Testing included Snellen eye charts, several Sloan low contrast charts, Pelli Robson (PR) contrast sensitivity charts, optical coherence tomography, visual fields, Farnsworth Munsell 100-hue test, visual evoked potentials (VEP), and visual function quality of life (VFQ-25) testing. Results98% of eyes could read two lines of the PR chart, while only 43% read the 2.5% contrast chart. Low contrast tests correlated strongly with each other and with retinal nerve fiber layer (RNFL) thickness, visual fields, and color vision but not with VEPs. For patients with RNFL <75µm, VFQ-25 scores dropped by approximately 2 points for every 1µm decrease in RNFL. ConclusionAmong MS patients with visual impairment due to optic neuritis, PR contrast sensitivity could be utilized as a single chart. Visual quality of life was associated with RNFL thinning below 75µm.

The early diagnosis of neurodegenerative changes in multiple sclerosis and clinically isolated syndrome based on optical coherence tomography of the retina

To study signs of neurodegeneration in the retina in multiple sclerosis. We studied the retinal nerve fiber layer (RNFL) in 265 (524 eyes) patients. We identified a reliable thinning of RNFL of both eyes in patients with relapsing-remitting multiple sclerosis (MS). A comparative analysis by sectors revealed a specific decrease in RNFL in temporal segments and papillomacular beam. Mean values of RNFL in patients with clinically isolated syndrome did not differ from those in controls. Thickening of RNFL of low segments (NI и TI) and decrease in the thickness of the upper temporal segment (TS) were found. The results have demonstrated that neurodegenerative signs in the retina may be early appearances of MS. Optical coherence tomography allows to perform objective and rapid screening of retinal neurodegenerative changes.

Longitudinal analysis of the peripapillary retinal nerve fiber layer thinning in patients with retinitis pigmentosa

To investigate longitudinal changes in peripapillary retinal nerve fiber layer (RNFL) thickness in patients with retinitis pigmentosa (RP). We re-examined 103 RP patients whose RNFL thickness was previously examined and reported. RNFL thickness was measured using Stratus optical coherence tomography and was compared with the previous measurements. The results were also compared with that of previously reported normal subjects. Association between the decrease rate and visual acuity, and visual field was also investigated. The mean follow-up period was 56.9 months. After excluding the patients in whom RNFL images were of poor quality, 88 patients were eventually analyzed. The average RNFL thickness decreased from 105.8 to 98.2 μm during the period, with the average rate of decrease being 1.6 μm/year. The decrease in RNFL was more evident in superior and inferior sectors. Cross-sectional linear regression analysis also revealed an age-dependent decrease in RNFL, with the slower rate of decrease being 0.94 μm/year. The decrease in RNFL thickness was significantly faster than that reported in normal subjects. The decrease rate was not associated with visual functions. Age-dependent RNFL thinning occurs at a faster rate in RP patients as compared with that in normal subjects. The result supports the notion that pathologic changes involve inner retina as well as outer retina in eyes with RP. Considering the discrepancy in the rate of RNFL thinning estimated from trend analysis and longitudinal measurement, care should be taken when interpreting the result of cross-sectional analysis.

Evaluation of retinal nerve fibre layer thickness and visual evoked potentials in optic neuritis associated with multiple sclerosis

Background: The aim was to compare the retinal nerve fibre layer (RNFL) thickness and visual evoked potentials (VEP) among eyes with multiple sclerosis (MS)‐associated optic neuritis, unaffected eyes of the same patients and eyes of disease‐free controls. Changes in RNFL thickness, visual acuity (VA) and VEP over time are evaluated in MS‐associated optic neuritis.Methods: Forty‐six eyes of 23 patients (six male and 17 female), who suffer from MS and were diagnosed with unilateral or bilateral optic neuritis, participated in the study. Forty eyes of 20 age‐ and gender‐matched controls were tested. VA measurement, optical coherence tomography and VEP were performed in all patients at presentation and at one, three and six months thereafter.Results: There was a statistically significant difference in VA between MS eyes with optic neuritis and controls (p < 0.0001), as well as between MS eyes with and without optic neuritis (p < 0.005). VA improved over time. Average RNFL thickness was reduced in MS eyes with or without optic neuritis in comparison to control eyes. This reduction in RNFL thickness was more marked over time. The amplitude of P100 was significantly decreased in MS eyes with optic neuritis in comparison to controls (p < 0.0001) and there was a statistically significant delay in peak time of P100 in MS eyes with optic neuritis versus the eyes of normal subjects (p < 0.0001), which improved over time.Conclusion: The present study suggests that there is a progressive decrease in RNFL over time in eyes with optic neuritis associated with MS. The amplitude and latency of P100 in VEP examination returned to normal ranges over time.

Using retinal architecture to help characterize multiple sclerosis patients

Objective: We compared retinal nerve fibre layer (RNFL) thickness and visual function in a heterogeneous multiple sclerosis (MS) cohort to determine whether optical coherence tomography (OCT) may complement the existing methods used to characterize MS patients. Design: Cross-sectional cohort study. Participants: One hundred and ninety-three patients with optic neuritis (ON) as a clinically isolated syndrome (CIS) ( n = 63), relapsing-remitting MS (RRMS) ( n = 108), secondary progressive MS (SPMS) ( n = 13), and primary progressive MS (PPMS) ( n = 9). Methods: All patients underwent standardized ophthalmic, neurological, and OCT testing at a single academic institution. Results: RNFL values were reduced in PPMS (94.3 μm), RRMS (99.6 μm), and SPMS eyes (84.7 μm) relative to CIS eyes (105.7 μm) ( p < 0.0001). RNFL values were lower in eyes with recurrent ON (64.2 μm) relative to eyes affected by a single ON event (86.3 μm) ( p < 0.0001). The strongest correlation between RNFL thickness and neurological disability occurred in RRMS patients ( r = −0.51, p < 0.0001). RNFL thickness correlated with visual field sensitivity for CIS ( r = 0.23, p < 0.01) and RRMS ( r = 0.22, p < 0.01) patients. Simple linear regression showed that every 10 μm decrease in RNFL correlated with a 5.8 decibel decrease in visual field sensitivity (adjusted R 2 = 0.35, p < 0.0001) for RNFL values less than 75 μm. Conclusions: There were robust correlations between RNFL thickness and visual function, particularly in ON eyes. OCT may complement the existing tools used to characterize MS patients, but further studies are needed.

Retinal nerve fibre layer measurements are reduced in patients with obstructive sleep apnoea syndrome.

To determine the retinal nerve fibre layer (RNFL) thickness in patients with obstructive sleep apnoea syndrome (OSAS) in order to investigate the possibility of detecting early signs of glaucoma in this population. A total of 66 consecutive patients admitted for polysomnographic evaluation of suspected OSAS. Patients underwent an overnight sleep study in an effort to diagnose and determine the severity of OSAS. Patients who had the disease were classified as having mild and severe OSAS, while patients who did not have the disease were classified as controls. All patients received physical, neurological, and ophthalmological evaluation including visual acuity, slit-lamp examination, Goldmann applanation tonometry, gonioscopy with a three mirror contact lens, and fundus examination. After these examinations, patients with glaucoma and patients who had ophthalmological and/or systemic disease known to affect RNFL thickness were excluded from the study. The RNFL thickness was assessed with a scanning laser polarimeter (Nerve Fiber Analyzer GDx, Laser Diagnostic Technologies Inc., San Diego, CA, USA). A total of 34 patients with obstructive sleep apnoea (19 mild, 15 severe) and 20 age-matched controls were included in the study. The thickness of RNFL was reduced in patients with OSAS compared to controls. The decrease in RNFL was found to be correlated with the severity of sleep apnoea (r=0.78, P=0.01). The sleep apnoea syndrome is correlated with a proportional decrease in the RNFL. Decreased ocular perfusion related to hypoxia and vasospasm associated with OSAS may cause RNFL thinning, which may precede clinically detectable glaucoma.