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Importance: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD). Objective: To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions. Evidence review: A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites. Findings: Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions. Conclusions: Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.

Background/objectivesREALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).Subjects/methodsDemographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time.Results44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutation, 8 (18%) carried the m.3460G>A ND1 mutation, and 9 (20%) carried the m.14484T>C ND6 mutation. Fourteen (32%) patients were under 18 years old at onset of vision loss and 5 (11%) were below the age of 12. The average duration of follow-up was 32.5 months after onset of symptoms. At the last observed measure, mean BCVA was 1.46 LogMAR in ND4 patients, 1.52 LogMAR in ND1 patients, and 0.97 LogMAR in ND6 patients. The worst visual outcomes were reported in ND4 patients aged at least 15 years old at onset, with a mean BCVA of 1.55 LogMAR and no tendency for spontaneous recovery. The LOESS modelling curve depicted a severe and permanent deterioration of BCVA.ConclusionsAmongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G>A ND4 mutation had the worst visual outcomes, consistent with prior reports.

Background/Objective To identify geographic and socioeconomic variables associated with residential proximity to Phase 3 ophthalmology clinical trial sites. Methods The geographic location of clinical trial sites for Phase 3 clinical trials in ophthalmology was identified using ClinicalTrials.gov. Driving time from each United States (US) census tract centroid to nearest clinical trial site was calculated using real traffic patterns. Travel data were crosslinked to census-tract level public datasets from United States Census Bureau American Community Survey (ACS). Cross-sectional multivariable regression was used to identify associations between census-tract sociodemographic factors and driving time (>60 min) from each census tract centroid to the nearest clinical trial site. Results There were 2330 unique clinical trial sites and 71,897 census tracts. Shortest median time was to retina sites [33.7 min (18.7, 70.1 min)]. Longest median time was to neuro-ophthalmology sites [119.8 min (48.7, 240.4 min)]. Driving >60 min was associated with rural tracts [adjusted odds ratio (aOR) 7.60; 95% CI (5.66–10.20), p  < 0.0001]; Midwest [aOR 1.84(1.15–2.96), p  = 0.01], South [aOR 2.57 (1.38–4.79), p  < 0.01], and West [aOR 2.52 (1.52–4.17), p  < 0.001] v. Northeast; and tracts with higher visual impairment [aOR 1.07 (1.03–1.10), p  < 0.001)]; higher poverty levels [4th v.1st Quartile of population below poverty, aOR 2.26 (1.72–2.98), p  < 0.0001]; and lower education levels [high school v. Bachelor’s degree or higher aOR 1.02 (1.00–1.03), p  = 0.0072]. Conclusions There are significant geographic and socioeconomic disparities in access to ophthalmology clinical trial sites for rural, non-Northeastern, poorer, and lower education level census tracts, and for census tracts with higher levels of self-reported visual impairment.

Background The TsiogkaSpaeth (TS) grid is a new, low-cost, and easy to access portable test for visual field (VF) screening which could be used by clinicians in everyday clinical practice. Our study aimed to determine the validity of an innovative screening grid test for identifying neurological disease-associated VF defects. Methods We enrolled two groups of participants: We assessed the one eye of ten consecutive adult patients with different types of neurological disease associated VF defects and ten eyes of controls in each group. The TS grid test was performed in each group. Sensitivity, specificity, and positive and negative predictive values of the TS grid scotoma area were assessed using the 24–2 VF Humphrey field analyzer (HFA) as the reference standard. Results Sensitivity and specificity of the TS grid test were 100% and 90.91%, respectively. The area under curve was 0.9545 with 95% CI 0.87–1.00. There was a significant correlation between the number of missed locations on the TS grid test and the visual field index of the HFA 24–2 ( r  = 0.9436, P  < .0001). Conclusion The sensitivity and specificity of the TS grid test were high in detecting VF defects in neurological disease. The TS grid test appears to be a reliable, low-cost, and easily accessed alternative to traditional VF tests in diagnosing typical neurological patterns of visual field defects. It would be useful in screening subjects for neurologically derived ocular morbidity in everyday clinical practice and in remote areas deprived of specialized health care services.

To evaluate the relationship of central corneal thickness to the changes in intraocular pressure (IOP) in the sitting and supine position. Observational case–control study. The study group included Primary open-angle and chronic angle closure glaucoma patients. The control group consisted of patients without glaucoma seen for their routine eye examination. Central corneal thickness was measured by ultrasound pachymetry. Patients were then randomized to IOP measurement by Tonopen either sitting or supine after maintaining that position for 5 min. The position was then reversed and IOP measurements taken again after 5 min. Main outcome measure was change in IOP. One hundred and eighty-two eyes (90 in cases and 92 in controls) were examined. The mean CCT was 538.11 ± 37.17 μm in the study group and 545.34 ± 36.01 μm in the control group ( P  = 0.185). The mean IOP in the sitting position was 19.54 ± 5.39 mmHg in cases and 14.82 ± 4.01 in controls ( P  < 0.001). The mean IOP in the supine position was 20.51 ± 5.48 mmHg in cases and 16.02 ± 3.24 in controls ( P  < 0.001). Mean IOP change from sitting to supine was statistically significant in both groups ( P  < 0.001 for both). Postural change was greater in cases than controls ( P  = 0.020). There was no correlation between postural IOP change and CCT in cases ( r  = 0.143, P  = 0.180) and controls ( r  = 0.096, P  = 0.362). Postural IOP change is greater in glaucoma patients than non-glaucomatous patients. There was no correlation between postural IOP change and CCT.

Optic nerve sheath meningioma is an uncommon tumor of middle age. Patients most often present with progressive visual loss, mild proptosis, and, occasionally, ocular motility defect. With modern neuroimaging, these tumors are relatively easy to diagnose. However, the computed tomography scan or magnetic resonance imaging scan obtained must be a high-resolution study focused on the optic nerve. Clinical observation may be appropriate for patients with relatively preserved vision. However, when vision deteriorates, fractionated stereotactic radiotherapy is indicated and can often restore or preserve visual function.

ObjectivesThis study aimed to evaluate the suitability of the National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) for measuring vision-related quality of life (VRQoL) in patients with Leber hereditary optic neuropathy receiving lenadogene nolparvovec gene therapy in three Phase III randomised controlled clinical trials.MethodsVRQoL was assessed using the NEI-VFQ-25 at baseline (n=174) and 2 years after treatment (n=152). All participants received lenadogene nolparvovec in at least one eye. The scoring structure of the original NEI-VFQ-25 was evaluated for fit to the Rasch model, and a post hoc revision was created and psychometrically reevaluated. Stacked analysis was conducted to compare Rasch-revised scores at baseline and 2 years after treatment.ResultsThe original NEI-VFQ-25 exhibited multiple issues including limitations in response functioning and scale dimensionality. These issues were rectified by revising the NEI-VFQ25 into two separate unidimensional scales measuring ‘Vision-related Activity Limitation’ (VAL) and ‘Socioemotional Functioning’ (SEF). Participants’ mean VAL score at baseline on a Rasch-transformed 0–100 scale was 46.1 (11.7), improving to 48.4 (13.7) after treatment (F(1, 324) = 2.67, p=0.103). On the SEF scale, there was a significant difference 2 years after treatment, with participants improving from a mean score of 40.1 (14.1) at baseline to 49.6 (17.6) (F(1, 324) = 29.1, p<0.001).ConclusionsThe scoring structure of the original NEI-VFQ-25 has limitations that undermine its psychometric validity as a measure of VRQoL. Using the Rasch-revised NEI-VFQ-25, we determined that improvement in VRQoL after treatment with lenadogene nolparvovec was driven predominantly by an improvement in socioemotional functioning.

A patient with enophthalmos was found to have occult metastatic breast carcinoma to the orbit despite normal findings on breast examination and mammogram. Enophthalmos can be a sign of serious systemic disease and should be appropriately investigated. Despite radiologically interpreted normal orbital and breast imaging, the clinician should rule out underlying subclinical malignancy and consider orbital biopsy. [Ophthalmic Surg Lasers Imaging 2004; 35:56-57.]

ObjectiveREFLECT is the first randomised, double-masked, placebo-controlled multicentre phase 3 clinical trial that evaluated the efficacy and safety of bilateral intravitreal (IVT) injection of lenadogene nolparvovec in subjects with Leber hereditary optic neuropathy carrying the m.11778G>A mutation.Methods and analysisA total of 98 subjects were enrolled with vision loss of ≤12 months. The subjects were randomised to one of two treatment arms with all subjects receiving an intravitreal (IVT) injection of lenadogene nolparvovec in their first affected eye and the second-affected eye randomised to receive IVT of either lenadogene nolparvovec or placebo.ResultsThe majority of subjects were male with a mean duration of vision loss of 8.3 months. All but one subject experienced bilateral loss of vision at the time of injection. The mean best-corrected visual acuity of first-affected eyes was worse compared with second/not-yet-affected eyes. Analysis of retinal anatomical parameters showed increased thinning in the first-affected eyes when compared with the second/not-yet-affected eyes with both treatment arms showing significant changes compared with unaffected individuals.ConclusionThe REFLECT trial is the third and the largest phase 3 clinical study evaluating lenadogene nolparvovec in m.11778G>A Leber hereditary optic neuropathy (LHON) subjects. The observed demographics in REFLECT are consistent with previous reports in LHON subjects in the acute and dynamic phases of LHON disease. Combined with the visual function and anatomical parameters obtained in the previous RESCUE and REVERSE trials, REFLECT has provided a uniformly collected data set that should help direct future LHON clinical trials.

ABSTRACT Purpose: To study the function of the parvocellular (P) and the magnocellular (M) visual systems with steady-state visual evoked potentials (VEPs) in anisometropic amblyopes. Methods: A matrix of isolated checks was superimposed on a steady background with different check sizes and temporal frequencies to form specific stimuli to preferentially activate the P or the M visual system. The amplitude of the VEP fundamental frequency was analyzed at the electrode Oz of 5 anisometropic amblyopes and 22 normal subjects. The normal subjects were tested at two visual acuity (VA) levels, 20/20 and 20/40, modified by lenses, to match with the VA levels of the fellow eyes and the amblyopic eyes of the amblyopes, respectively. Results: No significant amplitude difference was found between the dominant eyes and nondominant eyes of the normal subjects for either P or M stimuli at both 20/20 and 20/40 VA levels (P>.05). No significant amplitude difference was found between the fellow eyes of the amblyopes and the dominant eyes of normals for either P or M stimuli at 20/20 VA level (P>.05). A significant amplitude difference was found between the amblyopic eyes and the nondominant eyes of the normals for P stimuli (P<.05) but not for M stimuli (P>.05) at 20/40 VA level. Conclusions: The amplitude of the VEP fundamental frequency was selectively reduced for P stimuli in anisometropic amblyopic eyes. This ciinicai electrophysiologic finding confirms that only the function of the P visual system is abnormal in anisometropic amblyopic eyes. Journal of Pediatric Ophthalmology and Strabismus; 2000;37:73-78.