Modernizing the evaluation of infantile nystagmus: the role of handheld optical coherence tomography.

BACKGROUND: Infantile nystagmus syndrome can be associated with an afferent problem (anterior or posterior segment) or constitute an isolated idiopathic disorder. With a normal ophthalmic examination, current guidelines recommend electroretinography (ERG) rather than magnetic resonance (MRI) for preliminary workup. Given the limited use of optical coherence tomography (OCT) in preverbal children, the purpose of this study was to evaluate the role of handheld OCT (HH-OCT) in the initial diagnostic evaluation of infantile nystagmus. METHODS: In this cross-sectional case series, the medical records of all children with infantile nystagmus and HH-OCT imaging at the Duke Eye Center from August 2016 to July 2021 were retrospectively reviewed. Children with anterior segment disorders or obvious retina/optic nerve structural pathology, bilateral ophthalmoplegia, or Down syndrome were excluded. Two masked pediatric ophthalmologists graded HH-OCT images for optic nerve head and macular abnormalities. A neuro-ophthalmologist reviewed clinical findings of each patient's presenting visit and recommended appropriate testing (MRI vs ERG), initially without, and again with HH-OCT image review. RESULTS: A total of 39 cases were included, with mean presenting age of 1.3 years. Final diagnoses included retinal or foveal abnormalities (7), optic nerve pathology (13), idiopathic (10), or unknown (9). HH-OCT findings included optic nerve hypoplasia (1), optic nerve elevation (3), persistence of the inner layers at the fovea (9), thin ganglion cell layer (8), ellipsoid zone abnormality (3), and thin choroid (1). HH-OCT findings altered initial clinical-only management in 16 cases (41%), including avoiding MRI (5) and ERG (10) testing. CONCLUSIONS: Our results suggest that HH-OCT has the potential to augment and streamline the evaluation of infantile nystagmus.

Unilateral Glaucoma Without Facial Angioma in a Pediatric Patient: A Suspected Sturge-Weber Syndrome Variant.

The authors report a case of a 5-month-old full-term infant with chronic conjunctival redness and elevated intraocular pressure in the right eye. Magnetic resonance imaging ruled out leptomeningeal angiomatosis. Despite lacking a typical port-wine mark, the diagnosis of Sturge-Weber syndrome was established based on specific observations in the right eye that involved unilateral vascular glaucoma. These findings included Haab striae, a larger axial length measurement, an increased number of episcleral vessels with blood in Schlemm canal, and a thicker choroid in the macular region. This is the first reported pediatric case with these specific ocular manifestations in the absence of facial angioma, highlighting the need for awareness among clinicians to avoid misdiagnosis and facilitate proper management. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e19-e22.].

Social history and glaucoma progression: the effect of body mass index, tobacco and alcohol consumption on the rates of structural change in patients with glaucoma.

BACKGROUND/AIMS: Although obesity, tobacco and alcohol consumption were linked to the progression of numerous chronic diseases, an association of these social history aspects with glaucoma progression is not yet determined. This study aims to investigate the effect of body mass index (BMI) and history of tobacco and alcohol use on the rates of retinal nerve fibre layer (RNFL) change over time in glaucoma patients. METHODS: 2839 eyes of 1584 patients with glaucoma from the Duke Ophthalmic Registry were included. Patients had at least two spectral-domain optical coherency tomography (SD-OCT) tests over a minimum 6-month follow-up. Self-reported history of alcohol and tobacco consumption was extracted from electronic health records and mean BMI was calculated. Univariable and multivariable linear mixed models were used to determine the effect of each parameter on RNFL change over time. RESULTS: Mean follow-up time was 4.7±2.1 years, with 5.1±2.2 SD-OCT tests per eye. 43% and 54% of eyes had tobacco or alcohol consumption history, respectively, and 34% were classified as obese. Higher BMI had a protective effect on glaucoma progression (0.014 µm/year slower per each 1 kg/m2 higher; p=0.011). Tobacco and alcohol consumption were not significantly associated with RNFL change rates (p=0.473 and p=0.471, respectively). Underweight subjects presented significantly faster rates of structural loss (-0.768 µm/year; p=0.002) compared with normal weight. CONCLUSIONS: In a large clinical population with glaucoma, habits of tobacco and alcohol consumption showed no significant effect on the rates of RNFL change. Higher BMI was significantly associated with slower rates of RNFL loss.

Comparison of 10-2 and 24-2 Perimetry to Diagnose Glaucoma Using OCT as an Independent Reference Standard.

PURPOSE: To compare the performance of the 10-2 test versus 24-2 standard automated perimetry (SAP) test for the diagnosis of glaucoma using OCT as an independent standard for glaucomatous damage. DESIGN: Cross-sectional study. PARTICIPANTS: A total of 1375 pairs of 10-2 and 24-2 SAP tests from 569 eyes of 339 subjects were used for the analysis. A total of 440 (77%) eyes had a diagnosis of glaucoma, and 129 (23%) eyes were normal. All participants underwent 10-2 and 24-2 SAP tests within 30 days. METHODS: Glaucomatous severity was quantified based on OCT macula ganglion cell layer (mGCL) and circumpapillary retinal nerve fiber layer. The area under the receiver operating characteristic (ROC) curve (AUC) was used to compare 10-2 and 24-2 metrics for discriminating healthy eyes from those of glaucoma, at different levels of disease severity. MAIN OUTCOME MEASURES: Areas under the ROC curves and sensitivities at fixed specificities of 80% and 95%. RESULTS: The overall AUC for mean deviation (MD) for the 24-2 test (0.808) was significantly higher than that of the 10-2 test (0.742; P < 0.001). When compared at different stages of the disease, the 24-2 test performed generally better than the 10-2 test, notably in the earlier stages of the disease. For early damage (first quartile), the 24-2 MD had an AUC of 0.658 versus 0.590 for 10-2 MD (P = 0.018). For advanced damage (fourth quartile), corresponding values were 0.954 vs. 0.903 (P = 0.013). Similar trends were observed when glaucoma severity was defined based on structural macular damage with mGCL thickness. CONCLUSIONS: The 24-2 SAP test had better diagnostic accuracy compared with that of the 10-2 test for detecting equivalent levels of glaucomatous damage, as measured by quantitative assessment of retinal nerve fiber layer and macula by OCT. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Association of an Objective Structural and Functional Reference Standard for Glaucoma with Quality of Life Outcomes.

PURPOSE: To compare self-reported quality-of-life (QoL) outcomes of patients diagnosed as normal, glaucoma suspect, and glaucoma based on an objective reference standard for glaucomatous optic neuropathy (GON). DESIGN: Cross-sectional study. PARTICIPANTS: 1884 eyes of 1019 patients were included in the study. METHODS: The data was sourced from the Duke Glaucoma Registry. Eyes were classified according to the presence and topographic correspondence of functional and structural damage, as assessed by parameters from standard automated perimetry (SAP) and spectral-domain OCT (SD-OCT). The objective diagnosis of the worse eye was used to define patient-level diagnosis. To assess QoL in the diagnostic groups, 14 unidimensional vision-related items of the National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25) were used to assess QoL in the diagnostic groups. Association between NEI VFQ-25 Rasch-calibrated scores and diagnostic groups was assessed through multivariable regression that controlled for confounding demographic and socioeconomic variables such as age, sex, race, income, marriage status, insurance status, and highest education level. MAIN OUTCOME MEASURES: NEI VFQ-25 Rasch scores compared with objective criteria diagnosis based on SAP mean deviation (MD) and SD-OCT retinal nerve fiber layer (RNFL) thickness. RESULTS: Overall, eyes classified as normal, glaucoma suspect, and glaucoma had decreasing mean scores in SAP MD (0.2 ± 1.0 dB, -0.9 ± 2.4 dB, -6.2 ± 7.0 dB, respectively; P < 0.001) and SD-OCT RNFL thickness (97.8 ± 9.5 µm, 89.0 ± 13.1 µm, 64.5 ± 12.8 µm, respectively; P < 0.001). The mean Rasch-calibrated NEI VFQ-25 score was significantly different among normal, suspect, and glaucoma groups (82.9 ± 13.0, 78.2 ± 14.8, and 72.6 ± 16.2, respectively; P < 0.001). When adjusted for confounding socioeconomic variables, glaucoma patients had significantly worse QoL than those classified as normal (ß = -6.8 Rasch score units; P < 0.001). CONCLUSION: A glaucoma diagnosis, based on an objective reference standard for GON, was significantly associated with worse Rasch-adjusted scores of QoL. Utilization of such objective criteria may provide clinically relevant metrics with potential to improve comparability of research findings and validation of newly proposed diagnostic tools. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.