Ocular manifestations in Koolen-de Vries syndrome: an international study.

OBJECTIVES: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations. METHODS: This was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions. RESULTS: Sixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions. CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.

The Effect of Face Masks during COVID-19 Pandemic on Ocular Surface Temperature-A Clinical Thermographic Analysis.

Due to the COVID-19 pandemic, the center for disease control and prevention (CDC) recommends face-mask wearing for all people above the age of two years. The wearing of face masks creates a unique airflow towards the ocular surface which may influence the normal physiological conditions of the ocular and periocular surface. Healthy subjects with no ocular history were enrolled in this cross-sectional study. The Therm-App thermal imaging camera was used for ocular surface temperature (OST) measurements during inspirium and expirium. Five regions of interest (ROIs) were used to measure OST: medial conjunctive, cornea, lateral conjunctive, upper eyelid and entire orbital area. Additional measurements in the same locations were made with the upper margin of the mask taped with micropore surgical tape. Thirty-one patients were included in this study. OST during expirium was significantly higher compared to the temperature during inspirium in all locations measured (p < 0.001, paired samples t-test). The temperature of the upper eyelid was higher by more than 0.5 °C during expirium. Taping the mask's upper edges to the skin resulted in non-significant temperature changes in inspirium vs. expirium. In conclusion, wearing a face mask creates air flow towards the periocular and ocular surface, which changes the OST mostly on the eyelids.

COVID-19's Influence on Ocular Emergency Visits at a Tertiary Referral Center and Its Relationship to Emergency Indications by the American Academy of Ophthalmology.

PURPOSE: To examine the trends of ocular emergency admissions during the COVID-19 pandemic at a tertiary care center. METHODS: The study's sample consisted of all patients who were seen in the ophthalmic emergency room (OER) between March 15 and April 15, 2020 (during the COVID-19 pandemic) and in the same time frame of the previous year. The cases were categorized as urgent vs. nonurgent according to the AAO urgency guidelines during the coronavirus period, and the ability to treat the case with telemedicine was evaluated retrospectively. RESULTS: A total of 553 patients were admitted to the OER during the pandemic period, whereas in the same time frame of the previous year, 1,069 were admitted. The female/male proportion was 526/543 (49.2%/50.8%) in 2019 and 258/259 (46.7%/53.3%) the following year. Age (years, average ± SD) was 44.7 ± 24.5 in 2019 and 47.9 ± 23.4 in 2020. There were more self-referrals in 2020 compared to 2019 (41.1% vs. 32.6%; p=0.0004). The time spent in the OER was reduced from 109 ± 74 (minutes, average ± SDV) in 2019 to 73 ± 51 in 2020 (p < 0.0001). The most common cause of OER examinations in 2020 was related to the posterior segment of the eye (23.9%), whereas infection and inflammation of the anterior segment were the most common causes in 2019 (35.5%). Urgency by AAO standards was in agreement in 26.7% admissions in 2019 and 35.6% in 2020 (p=0.0002). CONCLUSION: The COVID-19 pandemic has influenced several aspects of the OER, including the number of referrals, type of ophthalmic emergency, the time spent in the OER, and the need for emergent treatment. Our change in the treatment algorithm was in agreement with the AAO recommendations during the pandemic.

Automated Direct Selective Laser Trabeculoplasty: First Prospective Clinical Trial.

Purpose: Direct selective laser trabeculoplasty (DSLT) is a rapid, noncontact automated procedure performed directly through the limbus without gonioscopy. In this first nonrandomized clinical trial we assessed its safety and ability to reduce intraocular pressure (IOP). Methods: Fifteen patients (15 eyes: 10 with open-angle glaucoma [OAG], 4 with ocular hypertension, and 1 with pseudoexfoliation glaucoma), naive or after medication washout, with an IOP ≥22 mm Hg, underwent DSLT by irradiation with 100 or 120 sequential noncontact 532-nm, Q-switched laser shots (0.8-1.4 mJ) automatically applied during 1.5 or 2.3 seconds on the limbus, guided by image analysis and eye tracking. Results were assessed at 1 and 3 hours, 1 day, 1 week, and 1, 3, and 6 months. Results: The mean ± standard deviation baseline IOP (mm Hg) in all eyes was 26.7 ± 2.3. At 1, 3, and 6 months, this value was significantly reduced to 21.7 ± 4.2 (by 18.1%), to 20.8 ± 2.5 (by 21.4%), and to 21.5 ± 4.1 (by 18.8%), respectively. In six patients treated with 1.4 mJ/shot, the mean IOP at 6 months decreased from 26.7 ± 3.2 to 19.3 ± 2.0 (27.1%, P = 0.03). There was a significant reduction in hypotensive medications (from 1.6 ± 1.0 to 0.4 ± 0.7, P = 0.03). No serious adverse events occurred. Conclusions: Automated DSLT appears to be an effective and safe noncontact, rapid modality for reducing IOP in patients with OAG. Higher energy usage led to better results. Translational Relevance: Studying laser transmission through sclera enabled laser irradiation of the trabeculum without gonioscopy.

Reduced stereoacuity as a predictor for clinically significant convergence insufficiency.

BACKGROUND: Stereoacuity relies on accurate binocular alignment. Convergence insufficiency (CI) a binocular motor disorder, interferes with near work. OBJECTIVE: To investigate the association between convergence amplitude (CA) and stereoacuity in a large paediatric cohort. METHODS: Retrospective chart review included patients aged 6-17 years; excluded patients with amblyopia, manifest strabismus or visual acuity <20/30 in either eye. Stereoacuity, measured by Randot test was defined as normal (≤40arcsec), subnormal (50-400arcsec) and poor (>400 arcsec). CA, measured using base out prism bar was defined by fusion break point (BP) and recovery point (RP), as none (BP=0), poor (BP <20 prism diopter (PD)), borderline (BP <30 PD or RP <20 PD), good (BP ≥30 PD and RP ≥20 PD) and excellent (does not break at 40PD). RESULTS: In 2200 subjects included, we found an increased prevalence of normal stereoacuity as convergence ability improves (χ2 test, p<0.001) with a negative correlation between stereoacuity and BP (Pearson correlation -0.13, p<0.001).CI was significantly associated with below normal stereopsis OR 1.86 (95% CI 1.3 to 2.7, p<0.001). Conversely, prevalence of CI was similar, whether or not CI-symptoms were reported. Follow-up data of at least 2.5 years from presentation was available for a small subgroup of 21 patients treated for CI. Convergence improved in 14 (66%), rate of normal stereoacuity increased from 29% at baseline to 76% at last follow-up (p=0.006). CONCLUSIONS: CA affects stereoacuity function in children. Evaluation of CA is required in all cases with poor stereoacuity, especially when other etiologies are amiss. The role of convergence improvement exercise on stereoacuity warrants further investigation.

Perfluorocarbon Liquid Vs. Subretinal Fluid Drainage during Vitrectomy for the Primary Repair of Rhegmatogenous Retinal Detachment: A Comparative Study.

PURPOSE: To compare the anatomical and functional results achieved with subretinal fluid drainage (SRFD) and perfluorocarbon liquid (PFCL) use in patients with rhegmatogenous retinal detachment (RRD) treated by primary pars plana vitrectomy (PPV). METHODS: The study included 162 eyes of 162 patients who underwent PPV for RRD, either with PFCL (n = 108) or SRFD (n = 54). The two groups were matched in 2:1 ratio for age, gender, and lens status. Groups were compared for rates of retinal reattachment, visual improvement, and the occurrence of recurrent RRD and any other postoperative complications. RESULTS: Both groups had a single surgery success rate of 90.7%, and 100% of retinas were reattached by the end of follow-up. Both groups had similar final VA (0.30 ± 0.39 logMAR in the SRFD group and 0.35 ± 0.44 in the PFCL group; p = 0.48) and degrees of visual improvement (0.64 ± 0.75 logMAR in the SRFD group and 0.59 ± 0.89 in the PFC group; p = 0.71). Complication rates were also similar between groups. The rate of additional interventions was higher (although not statistically significant) in the PFCL group than the SRFD group, due to cases of PFCL retention (4.6% vs. 1.8%, respectively). CONCLUSIONS: Both PFCL and SRFD achieved excellent results in terms of retinal reattachment and visual improvement, and have comparable safety profiles. A slightly higher rate of additional surgeries was found in the PFCL group. These findings indicate that PFCL are not necessary in routine PPV for RRD, as they do not improve the results achieved with SRFD and may be less cost-effective due to their higher price and potential for a higher rate of additional surgeries.

Retina and Nerve Fiber Layer Thickness in Eyes with Thyroid-Associated Ophthalmopathy.

BACKGROUND: Thyroid-associated ophthalmopathy (TAO) is an inflammatory disease that affects the thyroid gland and the eye orbit. Of patients with TAO, 3%-5% have severe sight-threatening disease due to optic neuropathy Optical coherence tomography (OCT), the non-invasive imaging technology that yields high-resolution cross-sectional images of the retina, provides qualitative and quantitative data on the retina. OBJECTIVES: To apply this technique to quantitatively assess retinal nerve fiber layer (RNFL) and macular ring thicknesses in healthy subjects and in patients with TAO to determine their relationship to the severity of the orbital disease. METHODS: All patients in the ophthalmology clinic who were diagnosed with TAO and underwent OCT imaging as part of their ocular examination comprised the study group, and healthy patients who volunteered to undergo OCT examination served as controls. Results of the complete ophthalmologic examination and OCT findings were collected from medical files, including the thickness of the RNFL and the macula. RESULTS: The study comprised 21 patients and 41 healthy controls. TAO patients exhibited RNFL thickening and inner macula thinning compared to healthy subjects. Mean RNFL thickness was correlated with the severity of the orbital disease. CONCLUSIONS: The OCT findings suggest that the retina is involved in TAO, probably as early as the subclinical stage. This highlights the ability of OCT to identify retinal changes earlier and far more accurately than is detected today, enabling earlier diagnosis and more timely treatment to prevent severe visual sequelae.