An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease due to a severely impaired central control of breathing and dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. We report a unique case of CCHS in association with monocular elevation deficit (MED) in a boy diagnosed with CCHS at birth. CASE DESCRIPTION: We report a case of a boy with a confirmed diagnosis of CCHS (complete sequencing of the paired-like homeobox 2b (PHOX2B) gene) after presenting little respiratory effort and cyanosis at birth. The ophthalmological examination shows an impaired elevation of the left eye, both in adduction and abduction, associated with mild and variable left ptosis. His mother has observed that the left eyelid elevates when the child feeds. A deviation in the primary gaze position or a chin-up position are not present. The funduscopic examination is normal. Given that deviation is limited to upgaze, the ptosis is mild and the patient's age, observation is decided. CONCLUSIONS: Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.

Epidemiology and clinical characteristics of psoriatic arthritis-related uveitis in Madrid, Spain.

PURPOSE: To describe the epidemiology and clinical characteristics of psoriatic arthritis (PsA) related uveitis in Madrid, Spain. METHODS: A case series nested in a retrospective single-center cohort of 494 patients with PsA was performed. Patients older than 18 years old whit a clinical diagnosis PsA-related uveitis who attended the Ramon y Cajal University Hospital in Madrid, Spain, between 1st January 2017 and 31st December 2019 were included in the study. Epidemiological and clinical data were retrieved from the electronic medical records. RESULTS: Thirteen cases of psoriatic arthritis-related uveitis (6 men and 7 women) were included. PsA-related uveitis showed an incidence of 0.05 cases per 100,000 persons/year (CI95 0.00-0.35), and a prevalence of 2.19 cases per 100,000 persons (CI95 1.24-3.79). The prevalence of active uveitis in the cohort of PsA patients was 2.6%. The first episode of uveitis (mean age of 48.15 ± 15.41 years) was anterior and unilateral in 92.31% of the cases. Most of the patients had a recurrent course (69.2%) with 0.92 flare-ups per patient/year (CI95 0.85-0.96). The uveitis preceded the diagnosis of psoriatic arthritis in 62.5% of the patients. In patients with PsA-related uveitis, HLA-B27 was present in 23.1%, HLA-Cw6 in 7.7%. CONCLUSIONS: Uveitis is a PsA manifestation that affects roughly 1 in 37 PsA patients, and that may precede the articular symptoms. It generally presents as a unilateral acute anterior uveitis and has a recurrent course. The most frequent observed complications are elevated intraocular pressure and cataracts.

Avoiding mask-related artefacts in visual field tests during the COVID-19 pandemic.

AIMS: To assess visual field (VF) pseudoprogression related to face mask use. METHODS: We reviewed a total of 307 VFs performed with a face mask (FPP2/KN95 or surgical masks) and compared them with prior VFs, performed before the pandemic. VFs with suspected pseudoprogression due to mask artefacts (VF test 1) were repeated with a surgical mask and an adhesive tape on its superior border (VF test 2) to distinguish from true VF loss. Several parameters including reliability indices, test duration, VF index (VFI), mean defect (MD) and pattern deviation probability plots were compared among last pre-COVID VFs, VF tests 1 and VF tests 2, using the Wilcoxon signed-rank test. RESULTS: We identified 18 VFs with suspected progression artefact due to masks (5.8%). In all of them, the median VFI and MD significantly improved after fitting the superior border of the mask, showing no significant differences with pre-COVID tests. The median fixation losses were significantly higher when wearing the unfitted mask (13% vs 6%,p=0.047). The inferior hemifield was the most affected, either as a new scotoma or as an enlargement of a prior defect. CONCLUSION: Unfitted masks can simulate VF progression in around 6% of cases, mainly in the inferior hemifield, and increase significantly the rate of fixation losses. A similar rate of artefacts was observed using FPP2/KN95 or surgical masks. The use of a surgical mask with an adhesive tape covering the superior border may reduce mask-related artefacts, although concomitant progression cannot be ruled out in all cases.

Changes in eyelid position after glaucoma filtering surgery.

BACKGROUND: While ptosis is a well-known consequence of glaucoma surgery, some isolated case reports point to the possibility of upper eyelid retraction occurring after glaucoma surgery. This study aims to analyze the occurrence of ptosis and eyelid retraction after glaucoma surgery and to evaluate factors contributing to these palpebral fissure changes. METHODS: Cross-sectional study including 100 eyes of 100 patients that had undergone unilateral glaucoma surgery. Upper eyelid height in the operated eye was measured by digital photography and compared with the fellow, non-operated eye. The main outcome was to determine if ptosis or retraction occurred in the operated eye in comparison with the fellow eye. The secondary outcome was to determine if any variable was associated with ptosis or retraction. A clinically significant difference (either toward ptosis or retraction) was defined as a difference ≥1 mm between both eyes. RESULTS: Of 100 eyes included 81 (81%) showed no change in eyelid height (-0.133 mm ± 0.496), 11 (11%) showed ptosis (-1.348 mm ± 0.387) and 8 eyes (8%) showed retraction (1.705 ± 0.634). A statistically significant relation was found between ptosis and pseudoexfoliation glaucoma (p = 0.003). A trend toward lower postoperative IOP and higher conjunctival blebs was found in eyes with postoperative eyelid retraction. CONCLUSIONS: Eyelid retraction was present in 8% of patients and ptosis in 11%. Patients with eyelid retraction showed around a 3 mmHg lower postoperative IOP than eyes without retraction. The presence of pseudoexfoliation may be a risk factor for this complication. A prospective study with a large number of patients would be required to confirm these results.