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.

Descemet's Membrane Detachment during Phacocanaloplasty: Case Series and In-Depth Literature Review.

This article presents three cases of Descemet's membrane detachment (DMD) occurring during 'ab externo' phacocanaloplasty procedures in three patients with uncontrolled primary open-angle glaucoma (OAG) and discusses the management of this condition by reviewing the available literature. Following a successful 360° cannulation of Schlemm's canal (SC), the microcatheter was withdrawn while an ophthalmic viscosurgical device (OVD) was injected into the canal. During passage through the inferonasal quadrant, a spontaneous separation of the posterior layer of the cornea was observed. Each case was managed differently after diagnosis, with the third case being drained intraoperatively based on experience gained from the previous cases. On the first postoperative day, slit-lamp biomicroscopy (BMC) revealed multiple DMDs in case one and a hyphema in the lower third of a deep anterior chamber. In the other two cases, a single DMD was observed. The second case developed hemorrhagic Descemet membrane detachment (HDMD), while the other two were non-hemorrhagic. In all three cases, anterior segment optical coherence tomography (AS-OCT) revealed the presence of retrocorneal hyperreflective membranes indicative of DMDs. These membranes were located in the periphery of the cornea and did not impact the visual axis. After evaluation, a small incision was made in the inferotemporal DMD of the first case. However, for the two remaining cases, a strategy of watchful waiting was deemed appropriate due to the location and size of the DMDs, as they did not affect the best-corrected visual acuity (BCVA). Over time, the patients demonstrated progressive improvement with a gradual reduction in the size of the DMDs.

Study of spectral-domain optical coherence tomography in children: normal values and influence of age, sex, and refractive status.

PURPOSE: To establish normal values for retinal nerve fiber layer (RNFL), macular thickness, and macular volume in children using spectral-domain optical coherence tomography (OCT). METHODS: A descriptive cross-sectional study was performed in healthy children between 3 and 14 years of age. Each child underwent a comprehensive ophthalmic examination that included 3 OCT scans with Spectralis (Heidelberg Engineering, Heidelberg, Germany). All measurements were performed by the same operator, and one eye was randomly selected. The influence of age, sex, and refraction on OCT measurements was analyzed. RESULTS: The sample consisted of 162 Caucasian subjects, mean age 8.1 ± 3.03 years. The spherical equivalent was 0.03 ± 0.19 D (range ±4 D, astigmatism <1 D). The average values were 263.69 ± 4.54 µm for central macular thickness, 0.21 ± 0.01 mm3 for central macular volume, and 100.45 ± 1.98 µm for RNFL. A significant correlation between RNFL and spherical equivalent was found for the nasal (p = 0.001), inferior (p = 0.009), and inferior nasal (p = 0.005) sectors. No differences were found with regard to sex (p>0.05). However, central macular thickness and central macular volume were correlated with age (p = 0.027, p = 0.02). CONCLUSIONS: This study provides reference values for macular thickness, macular volume, and RNFL in healthy children.

Keratitis after Implantation of Intrastromal Corneal Rings with Spontaneous Extrusion of the Segment.

PURPOSE: To report a case of bacterial keratitis in a patient with a history of intrastromal corneal ring segments (INTACS®) implantation to correct keratoconus. METHODS: The patient's history, clinical presentation, pathological analysis and therapeutic management were reviewed. RESULTS: A 36-year-old-man was referred to our department due to decreased vision and intense pain in his left eye, 40 days after INTACS® implantation for keratoconus. Slit-lamp examination revealed epithelial defects and stromal infiltrates in the lower channel without evidence of the inferior ring. The anterior chamber also showed a significant fibrin reaction to hypopyon. A low-tension suture was removed at the site of the incision. Microbiological study of the conjunctival swab was positive for Staphylococcus epidermidis, but the corneal culture was sterile. The patient was treated with topical fortified and systemic antibiotics. The infection slowly resolved, leaving opacity at the inferior segment site. CONCLUSIONS: Infectious keratitis following INTACS implantation is an infrequent complication that can have important consequences without suitable and early therapeutic management.