Infantile nystagmus syndrome: An observational, retrospective, multicenter study.

SIGNIFICANCE: This multicenter study assessed clinical and psychological aspects of infantile nystagmus syndrome (INS) focusing on its management and nonsurgical treatment. PURPOSE: This study aimed to assess clinical features, management, relationship life, and psychological impact in a group of patients with nystagmus onset in pediatric age. METHODS: This observational study included patients diagnosed with INS referred to two Italian centers from January 1, 2017, to December 31, 2020. Ophthalmologic and orthoptic features and impact of visual function on quality of life, according to nystagmus-specific nystagmus quality of life questionnaire, were analyzed within the overall sample and in any of INS subgroups. RESULTS: Forty-three patients were included; 65.1% of them had idiopathic INS (IINS), and 34.9% had INS associated with ocular diseases (INSOD). The median age was 15.4 years (interquartile range [IQR], 10.4 to 17.3 years), significantly different between groups (median, 15.8 years among those with IINS vs. 12.3 years among those with INSOD; p<0.001). In the INSOD subgroup, strabismus was significantly more prevalent (93.3 vs. 57.1%; p=0.017). Binocular distance best-corrected visual acuity in primary position was significantly higher in the IINS subsample (p<0.001). Such behavior was further confirmed at anomalous head position evaluation (p<0.001). At near best-corrected visual acuity assessment, differences between groups were more remarkable in primary position (p<0.001) than in anomalous head position. Contrast sensitivity showed significantly higher values in the IINS subgroup (p<0.001). The nystagmus quality of life questionnaire disclosed a significantly lower score in IINS as compared with INSOD (median total score, 90.5 [IQR, 84 to 97] vs. 94 [IQR, 83.0 to 96.5]; p<0.001). CONCLUSIONS: The IINS group showed significantly better ophthalmologic and orthoptic outcomes than the INSOD group. The psychological and quality-of-life impact was instead significantly greater in the IINS group. To the best of our knowledge, this is the first multicenter study investigating the clinical features of IIN and comparing the two main subgroups, IINS and INSOD.

Enhancing the Functional Performance of Patients with Late-Stage Age-Related Macular Degeneration Implanted with a Miniature Telescope using Rehabilitation Training.

INTRODUCTION: In this work, our aim is to report the functional outcomes of cataract surgery with smaller-incision new-generation miniature telescope (SING IMT) implantation followed by rehabilitation training in patients with central visual loss due to late-stage age-related macular degeneration (AMD). METHODS: This retrospective study included patients who were monocularly implanted with SING IMT and then followed a rehabilitation program based on 6 biweekly sessions focused on visual abilities, reading, writing, visual motor integration and mobility. A total of 11 participants were included in this study. Reading acuity (RA), reading speed (RS), and fixation stability (FS) were assessed biweekly at 6-, 8-, 10-, 12-, 14-, and 16-week follow-up visits after SING IMT implantation and at a final assessment at 24 weeks. Best-corrected distance visual acuity (BCDVA) was also measured at baseline and at the same postoperative timepoints. RESULTS: Mean baseline BCDVA was 12.5 ± 8.6 letter score. Both RA and RS were found to be significantly improved from the first rehabilitation session (6 weeks after surgery) to the last session (24 weeks after surgery). At the end of the rehabilitation program, mean RA was 0.45 ± 0.19 LogMAR and mean RS was 30.9 ± 17.6 words per minute. Moreover, all patients achieved a FS of 15 s or more after the last rehabilitation session. Most patients (55%) achieved an improvement of 15 letters in BCDVA at the end of the study. CONCLUSIONS: This study suggests that rehabilitation training can improve visual functions of patients with late-stage AMD implanted with SING IMT in real-world tasks such as reading skills.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder belonging to the RASopathies, a group of developmental syndromes caused by upregulated RAS/MAPK signaling. Pathogenic variants affecting four genes, KRAS, BRAF, MAP2K1 and MAP2K2, encoding core signal transducers of the pathway, underlie the condition. Major clinical features include a distinctive facies, ectodermal and cardiac anomalies, reduced postnatal growth, intellectual disability, and musculoskeletal abnormalities. Similar to other RASopathies, reports of visual impairment, high refractive error, optic nerve pallor, and other ocular abnormalities have been anecdotally reported in the literature. The aim of our study is to report the prevalence of ophthalmologic abnormalities in a large monocentric cohort of individuals affected by CFCS and explore the occurrence of genotype-endophenotype correlations in this series of patients. We observed that BRAF mutations are associated to a higher prevalence of anisometropia >3D (11.8% vs. 0%) and high astigmatism (29.4% vs. 0%; both p < 0.001) while patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012). Pale optic disc was associated with higher prevalence of inferior oblique muscle (IO) overaction (33.3% vs. 0%) and lower prevalence of ptosis (0% vs. 11.8%; both p < 0.001). Combined exotropia, IO overaction and nystagmus were frequent in patients with pale optic nerve. Our findings might suggest the need for earlier ophthalmologic referral for CFCS patients due to high risk of amblyopia, especially those expressing BRAF mutations.

Microvascular involvement in migraine: an optical coherence tomography angiography study.

OBJECTIVE: The aim of this study was to evaluate the microvasculature of the macula and the optic nerve in patients affected by migraine with aura (MA) and without aura (MO) by optical coherence tomography angiography (OCTA), comparing the findings with healthy controls (HC). METHODS: We collected data from ocular and orthotic examinations, including eye motility, intraocular pressure measurement, best-corrected visual acuity (BCVA) measurement, objective refraction measurement, fundus examination, macular and optic disk OCTA examination. All subjects were imaged with solix fullrange OCT. The following OCTA parameters were recorded: macular vessel density (VD), inside disc VD, peripapillary VD, disc whole image VD, fovea choriocapillaris VD, fovea VD, parafovea VD, peripapillary thickness, fovea thickness, parafovea thickness, macular full retinal thickness, and foveal avascular zone (FAZ) parameters. Clinical and demographical data about migraine patients were collected by a neurologist. RESULTS: We included 56 eyes from 28 patients with a diagnosis of MO, 32 eyes from 16 patients with a diagnosis of MA, and 32 eyes from 16 HC subjects. The FAZ area was 0.230 ± 0.099 mm2 in the MO group, 0.248 ± 0.091 mm2 in the MA group and 0.184 ± 0.061 mm2 in the control group. The FAZ area was significantly larger in the MA group than in the HC group (p = 0.007). The foveal choriocapillaris VD was significantly lower in MA patients (63.6 ± 2.49%) when compared with MO patients (65.27 ± 3.29%) (p = 0.02). CONCLUSION: An impairment of retinal microcirculation can be detected in patients with MA, as demonstrated by the enlargement of FAZ. Moreover, the study of choroid circulation may reveal microvascular damage in patients with migraine with aura. OCTA is a useful non-invasive screening tool for the detection of microcirculatory disturbance in patients with migraine.

3D Da Vinci robotic surgery: is it a risk to the surgeon's eye health?

Da Vinci three-dimensional (3D) system has been increasingly used in customary surgical settings, gaining fundamental relevance for abdominal, urological, and gynecological laparoscopic surgery. The aim of this research is to evaluate the degree of discomfort and potential changes in the binocular vision and ocular motility of surgical operators, who employ 3D vision systems during Da Vinci robotic surgery. Twenty-four surgeons were enrolled in the study, including twelve who typically use the 3D Da Vinci system and twelve who routinely employ 2D system. Routine general ophthalmological and orthoptic examinations were conducted at baseline (T0), the day before surgery, and 30 min after the 3D or 2D surgery (T1). In addition, surgeons were interviewed using a questionnaire of 18 symptoms, with each item containing three questions regarding the frequency, severity, and bothersomeness of the symptoms, in order to evaluate the degree of discomfort. Mean age at evaluation was 45.28 ± 8.71 years (range 33-63 years). Cover test, uncover test, and fusional amplitude showed no statistically significant difference. After surgery, no statistical difference was observed in the Da Vinci group on the TNO stereotest (p > 0.9999). However, the difference in the 2D group resulted statistically significant (p = 0.0156). Comparing participants (p 0.0001) and time (T0-T1; p = 0.0137), the difference between the two groups was statistically significant. Surgeons using 2D systems reported more discomfort than those using 3D systems. The absence of short-term consequences following surgery with the Da Vinci 3D system is a promising conclusion, considering the numerous advantages of this technology. Nonetheless, multicenter investigations and more studies are required to verify and interpret our findings.

Multimodal ocular imaging in Proteus syndrome.

In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rare genetic disorder. Case #1 describes a 26 year old male patient followed for multiple ophthalmic anomalies: a limbal dermoid cyst, a unilateral cataract, bilateral nystagmus, severe myopia and unilateral optic nerve head drusen. Case #2 describes a 20 year old female patient referred to our Ophthalmology Department for a routine ophthalmologic evaluation after being treated for 3 years with Miransertib (an experimental AKT-pathway inhibitor). Both patients underwent a complete ophthalmologic examination and a multimodal imaging evaluation. The multimodal imaging approach has revealed useful to evaluate both cases in detail and to keep track of disease evolution over time, moreover providing helpful features to further characterize this rare syndrome.

Long-term follow-up of surgical treatment of thyroid-associated orbitopathy restrictive strabismus.

Objective: Thyroid-associated orbitopathy (TAO) is the most frequent cause of extraocular muscle enlargement, with consecutive restrictive strabismus. The main muscles involved are inferior and medial rectus, resulting in horizontal esotropia and/or vertical strabismus. Surgery may either establish or improve binocular single vision. The aim of the present study is to describe long-term follow-up of patients who underwent horizontal or vertical TAO strabismus surgery. Methods: This observational retrospective study included 29 patients suffering from either vertical or horizontal TAO strabismus and diplopia, of whom 11 underwent bilateral medial recti muscle recession (Group A) and 18 underwent unilateral inferior rectus muscle recession (Group B). The endpoint of the study was the assessment of changes in deviation angle and diplopia across four time points (baseline, 7 days, 6 months, and 24 months) in each group. Results: In Group A, the horizontal deviation angle significantly decreased 7 days after intervention (p < 0.001), without modifications overtime. In Group B, both deviation angles in primary and down-gaze position significantly decreased from baseline, both 7 days after surgery (p < 0.001) and at 6 months (p = 0.040). An overcorrection, with an inversion of vertical deviation angle, was observed across the different time points. Conclusions: Horizontal TAO strabismus correction leads to significant improvements of deviation angle and diplopia, with a stable undercorrection overtime. Inferior rectus recession leads to more unstable results, with a trend towards overcorrection limited to the first 6 months after surgery.

An epidemiologic analysis of the association between eyelid disorders and ocular motility disorders in pediatric age.

Aim of the study was to assess: (a) the prevalence and type of strabismus, ptosis and eyelid dynamic disorders features, (b) the prevalence of refractive errors, amblyopia and, (c) their association with ocular/systemic syndromes in a cohort of patients. This is a retrospective observational multicenter cohort study. Patients with coexisting ocular motility disorders, comitant and incomitant strabismus, ptosis and dynamic eyelid disorders who have never undergone surgery were enrolled throughout a 3-years a study period. 137 out of 19,089 patients were enrolled, of which 97 with uniocular and 40 with binocular disease. Isolated congenital ptosis was observed in 84 patients. A polymalformative syndrome was present in almost one third of cases, whilst among strabismus type, esotropia was slightly more prevalent. Most patients were hypermetropic. In monocular disease, myopia mainly affected older patients, who were characterized by a worse ptosis margin reflex distance and levator function, and significantly higher astigmatism. Amblyopia occurred in 67.4% of the study sub-population. Of note, in monocular disease this was mild in 25.8%, moderate in 24.2% and severe in 11.3% of cases, whilst in binocular disease it was mild in 25%, moderate in 41.7% and severe in 16.7%. All patients with coexisting eyelid and ocular motility dysfunctions in pediatric age need ophthalmologic and systemic evaluation to accurately assess amblyopia, refractive errors and systemic/ocular disorders.

Comparison of real-time PCR assay with a commercial rapid test based on the immunochromatographic principle for the detection of Chlamydia trachomatis in seminal fluid and urine specimens.

Chlamydia trachomatis is the most common sexually transmitted bacterial infection worldwide, with the highest prevalence in sexually active young women. Since most chlamydial infections are asymptomatic, facilitating the transmission of the pathogen in the population, regular screening is recommended for at-risk sexually active individuals. Hence, a sensitive, specific, inexpensive diagnostic test that can be executed efficiently and quickly to yield results would be helpful. In this study, we evaluated the performance (sensitivity and specificity) of the Chlamydia Rapid Test Device, an inexpensive rapid test based on immunochromatographic analysis. We then compared these results to those obtained using real-time PCR, the gold standard for C. trachomatis testing. Seminal fluid and urine specimens of male subjects were tested. The rapid test was applied to 220 seminal fluid samples, showing a sensitivity of 0%. On the other hand, used in 114 urine specimens, the rapid test showed 37.5% and 100% sensitivity and specificity, respectively. Hence, the Chlamydia Rapid Test Device was shown to be insufficiently sensitive to be recommended as a screening test and diagnostic method for the detection of C. trachomatis in symptomatic and asymptomatic subjects. Finally, the present investigation showed an infection prevalence of 5% calculated using seminal fluid, with a mean age of 28 years.