BackgroundIncreasingly, neonatal clinics seek to minimize painful experiences and stress for premature infants. Fundoscopy performed with a binocular indirect ophthalmoscope is the reference examination technique for screening of retinopathy of prematurity (ROP), and it is associated with pain and stress. Wide-field digital retinal imaging is a recent technique that should be evaluated for minimizing infant pain and stress.MethodsThe purpose of the study was to assess and compare the impact of using a binocular indirect ophthalmoscope (BIO), or wide-field digital retinal imaging (WFDRI) on pain and stress in infants undergoing ROP screening examination. This was a comparative evaluation study of two screening procedures. Ophthalmologic examinations (N = 70) were performed on 24 infants with both BIO and WFDRI. Pain assessments were performed with two specific neonatal scales (Crying, requires oxygen, increased vital signs, expression and sleeplessness, CRIES and, Premature infant pain profile, PIPP) just prior to the examination, and 30 seconds, 1 hour, and 24 hours later after ending the examination.ResultsChanges over time were significantly different between BIO and WFDRI with both scales (PIPP score, p = .007, and CRIES score, p = .001). Median PIPP score (interquartile interval) at baseline was 4 (3–5). At 30 seconds the score was 8 (6–9) for BIO and 6 (5–7) for WFDRI, respectively. The increase in PIPP score between baseline and 30 seconds was significantly lower with WFDRI (p = .006). The median increase in CRIES score from baseline to 30 seconds was 1 point lower for WFDRI than for BIO (p < .001). No significant difference in response remained at 1 hour or 24 hour assessments.ConclusionsA transient short-term pain and stress response occurs with both BIO and WFDRI. Infants examined for screening of ROP with digital retinal imaging present less pain and stress at 30 seconds following completion of the exam when compared with binocular indirect ophthalmoscopy.

We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.

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Importance Optical coherence tomography software classifies abnormality of macular ganglion cell‐inner plexiform layer thickness and macular retinal nerve fibre layer thickness based on adult series. Background We assessed the impact of using paediatric reference macular ganglion cell complex values instead of adult reference values. Design Cross‐sectional study. Primary and tertiary health‐care setting. Participants Out of 140 healthy participants aged 5 to 18 years, 90% were eligible. Methods Following a dilated eye examination and cycloplegic refraction, participants underwent optical coherence tomography ganglion cell scans (Topcon 3D OCT‐2000; Topcon Corporation, Tokyo, Japan). Right eye measurements for superior, inferior, and total layer thickness and spherical equivalent were reported, together with age, sex and origin. Main Outcome Measures Paediatric reference values by age and spherical equivalent were produced, and the specific agreement between paediatric and adult ganglion cell complex reference values below or equal to percentile 5 was estimated. Results The multivariate analysis confirmed a positive association between spherical equivalent and macular ganglion cell‐inner plexiform layer thickness, and between age and macular retinal nerve fibre layer (five out of six regression coefficients P values were ≤ 0.03). Specific agreement was 25% for ganglion cell‐inner plexiform layer thickness and > 80% for macular retinal nerve fibre layer. Adult‐based software identified low ganglion cell values in one in seven children compared to paediatric reference values (0.8% vs 5.5%, P = 0.031). Conclusions and Relevance The availability of optical coherence tomography ganglion cell complex reference values for paediatric age and spherical equivalent groups can be used to improve detection of children with low cell layer thickness.

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