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.

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.

CHOROIDAL THICKNESS AND VOLUME IN A HEALTHY PEDIATRIC POPULATION AND ITS RELATIONSHIP WITH AGE, AXIAL LENGTH, AMETROPIA, AND SEX.

PURPOSE: To evaluate choroidal thickness (CT) and volume in healthy pediatric individuals using enhanced depth imaging spectral domain optical coherence tomography (SD-OCT), as well as its association with age, sex, axial length (AL), and refractive error. METHODS: Ninety-three eyes from 93 healthy pediatric individuals were examined. An Early Treatment Diabetic Retinopathy Study grid was applied to analyze CT and volume map in each of its nine sectors. RESULTS: The mean subfoveal CT and volume were 314.22 ± 55.48 µm and 0.25 ± 0.04 mm, respectively. The nasal CT and volume of both the inner and the outer rings were significantly lower than the temporal area of the same ring and lower than the subfoveal choroidal thickness. A significant negative correlation between the subfoveal CT and AL (r = -0.250, P = 0.015) and a significant positive correlation between the subfoveal CT and refractive error (r = 0.238, P = 0.006) were found. The estimation of the variation in the subfoveal CT in relationship to the AL was -13.55 µm per millimeter. The variation in the subfoveal CT with refractive error was 7.52 µm per diopter. The estimation of the variation in the total choroidal volume related to the AL and ametropia was, respectively, -0.2354 mm per millimeter and 0.1412 mm per diopter. CONCLUSION: Healthy pediatric subjects exhibit choroidal differences in refractive error and AL. In the study population, CT and volume show an increase with age after adjusting for AL.

Multifocal intraocular lenses for unilateral cataract in children.

PURPOSE: To evaluate the implantation of apodized diffractive multifocal intraocular lenses (IOLs) in children with unilateral cataract. SETTING: Ophthalmology Service, Hospital Clínico Lozano Blesa, Zaragoza, Spain. DESIGN: Prospective clinical study. METHODS: Five children between 4 and 6 years of age with unilateral cataract had cataract extraction and implantation of an apodized diffractive multifocal IOL (AcrySof Restor SN60D3). Phacoaspiration was accompanied by posterior capsulorhexis followed by an anterior vitrectomy. Uncorrected distance (UDVA), corrected distance (CDVA), and corrected near (CNVA) visual acuities; binocular function using the Worth 4-dot test and the TNO stereotest; and subjective symptoms such as glare and halos were evaluated over 21 months of follow-up. RESULTS: At the final follow-up visit, the mean UDVA was 0.45 ± 0.149 logMAR and the mean CDVA was 0.30 ± 0.06 logMAR with 20/32 in 3 eyes, 20/50 in 1 eye, and 20/63 in 1 eye. The mean CNVA was 0.10 ± 0.05 logMAR (about 20/25) with J1 in 2 eyes, J2 in 1 eye, J3 in 1 eye, and J4 in 1 eye. The stereoacuity was 120 seconds of arc (arcsec) in 2 patients, 240 arcsec in 1 patient, 1980 arcsec in 1 patient, and nonexistent in 1 patient. The Worth 4-dot test showed that 4 patients had fusion. None of the 5 patients complained about halos or glare. No IOL decentration was observed in any patient. CONCLUSION: Implantation of an apodized multifocal IOL seems to be a satisfactory alternative to monofocal pseudophakia in children with unilateral cataract.