ABSTRACT
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases. By exome sequencing, three Italian and one Spanish male children, from three independent families, were found to carry the same hemizygous novel missense variant p.(Arg32Leu) in RPL10, inherited by their unaffected mother in all cases. The variant, not reported in gnomAD, is located in the 28S rRNA binding region, affecting an evolutionary conserved residue and predicted to disrupt the salt-bridge between Arg32 and Asp28. In addition to features consistent with RPL10-related disorder, all four boys had retinal degeneration and postnatal microcephaly. Pathogenic variants in genes responsible for inherited retinal degenerations were ruled out in all the probands. A novel missense RPL10 variant was detected in four probands with a recurrent phenotype including ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies. The presented individuals suggest that retinopathy and postnatal microcephaly are clinical clues of RPL10-related disorder, and at least the retinal defect might be more specific for the p.(Arg32Leu) RPL10 variant, suggesting a specific genotype/phenotype correlation.
Subject(s)
Autism Spectrum Disorder , Intellectual Disability , Microcephaly , Nervous System Malformations , Humans , Intellectual Disability/genetics , Intellectual Disability/pathology , Male , Microcephaly/genetics , Microcephaly/pathology , PhenotypeABSTRACT
PURPOSE: The purpose of the present study was to investigate the perfusion density (PD) of macular superficial (SCP) and deep capillary plexus (DCP), the size of foveal avascular zone (FAZ) and central macular thickness (CMT) in healthy children using optical coherence tomography angiography (OCT-A). PATIENTS AND METHODS: About 206 eyes of 111 children were analyzed. The correlation of gestational age (GA), birth weight (BW), age, sex, refractive errors, and visual acuity (VA) with OCT-A parameters were investigated. RESULTS: The mean PD of the fovea and the mean FAZ area of SCP were 17.1% (DS: 4.26) and 234.47 (DS: 106.39) µm2. The mean PD of the fovea and the mean FAZ area of DCP were 13.5% (DS: 5.23) and 298.32 (DS: 112.37) µm2. Superficial and deep FAZ areas were not correlated with sex, age, BW, refractive errors, or VA. FAZ area of SCP was correlated with foveal PD (r = -0.76) and with CMT (r = -0.68). FAZ area of DCP was correlated with foveal's PD (r = -0.61). There was no correlation between CMT and refractive errors. CONCLUSION: OCT-A may provide a non-invasive and reliable approach to evaluate macular perfusion in children. As the FAZ area, PD, and CMT change during the growth period, we performed established a reference range for different ages.
Subject(s)
Refractive Errors , Tomography, Optical Coherence , Birth Weight , Child , Fluorescein Angiography/methods , Fovea Centralis/blood supply , Humans , Retinal Vessels/diagnostic imaging , Retrospective Studies , Tomography, Optical Coherence/methodsABSTRACT
PURPOSE: This study evaluated fundus changes in a 6-year-old child who contracted Sars-CoV-2 without developing symptoms of the disease. MATERIALS AND METHODS: The patient underwent a complete ophthalmic evaluation, which included assessment of visual acuity with and without correction, extensive ophthalmological examination, cicloplegic refraction by retinoscopy and funduscopic examination, OCT, and angio-OCT examination. RESULTS: Fundoscopic examination in a young patient with previous Sars-CoV-2 infection showed marked vascular tortuosity, evident both at the posterior pole and retinal periphery, especially on the arterial vasculature, and cotton wool spots along the retinal vessels, highlightable also at OCT and angio-OCT examination. These alterations persist at a 6-month follow-up. CONCLUSIONS: In COVID-19 infection, even in asymptomatic pediatric patients, vasculitis develops also affecting the retinal vessels, appreciable on fundus examination. A thorough eye examination in all COVID-19 patients with close follow-up is therefore important. This is the first case report on retinal changes in a pediatric patient.
Subject(s)
COVID-19 , Child , Fluorescein Angiography , Fundus Oculi , Humans , Ophthalmoscopy , Retina , SARS-CoV-2ABSTRACT
PURPOSE: The purpose of this study is the motor outcome analysis of early Botulinum toxin (BT) treatment in patients affected by large-angle infantile esotropia (IE). PATIENTS AND METHODS: Retrospective analysis of 130 medical charts of IE patients who underwent BT injections between 2004 and 2019 was performed. All patients underwent BT injections within 13 months of age. RESULTS: Thirty patients, matching the inclusion criteria, were included in the study. Twenty-eight patients showing residual ET ≥25 PD (34.3±6.6 PD ranged from 25 to 50) underwent surgery. CONCLUSION: Our result after 1 Botulinum toxin injection showed a very low success rate (6.7%) at last follow-up (28.3±7.2 months). Our data would suggest one Botulinum toxin injection in children affected by large-angle infantile esotropia allows a significant reduction of deviation but does not avoid the need for surgical treatment.
