Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. We have investigated the visuospatial and neuromotor phenotype in eight patients with ARID1B mutations. A paramedian sagittal section of the brain MRI was selected, and corpus callosum was measured in anteroposterior length, genu and trunk width. Spearman's rank order coefficients were used to explore correlations between visuospatial and social cognitive variables and dimensions of the corpus callosum. A significant correlation between genu width size and visual cognition was observed. Retrocerebellar cysts were associated with corpus callosum anomalies. Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin-Siris syndrome.

Visual Function in Asymptomatic Patients With Homozygous Sickle Cell Disease and Temporal Macular Atrophy.

Importance: Temporal macular involvement in sickle cell disease can now easily be detected by optical coherence tomography (OCT). However, while recent studies have demonstrated its high prevalence, little is known about its potential consequences on visual function. Objective: To assess the visual function of patients with sickle cell disease with no visual symptoms despite temporal macular atrophy. Design, Setting, and Participants: This retrospective case series included data collection and explorations made in a single referral center for sickle cell disease in 2016. Three patients with sickle cell disease exhibiting preserved visual acuity but showing temporal macular retinal atrophy were included. Exposures: Patients underwent the following explorations: best-corrected distance and near visual acuity evaluation; dilated fundus examination; OCT with 12 × 6-mm thickness map; horizontal, vertical, and en face sections; OCT angiography of the 6 × 6-mm perifoveal retina; 30° and 12° central visual fields; Lanthony 15-hue color vision test; automated static contrast sensitivity test; and global electroretinography. Main Outcomes and Measures: The OCT thickness maps were checked for areas of retinal thinning, appearing as blue patches. When present, these areas were compared with the areas of superficial and deep capillary flow loss on OCT angiography and with the scotomas on visual fields. Contrast sensitivity and color vision loss were quantified. Results: All 3 patients included had homozygous sickle cell disease. They presented with a 20/20 distance visual acuity, and Parinaud 1,5 near visual acuity in both eyes. They were all followed up for a severe cerebral vasculopathy related to sickle cell disease. The areas of atrophy involved the inner retinal layers and were associated with an absence of signal in the deep capillary plexuses in OCT angiography. These patches of retinal thinning were also matching with scotomas in the automated visual fields. Color vision ability and contrast sensitivity were impaired in all patients. Global electroretinography findings were normal. Conclusions and Relevance: Temporal macular atrophy in sickle cell disease may have direct consequences on visual function, including in children, even when visual acuity is preserved. Optical coherence tomographic imaging may be warranted when evaluating patients with sickle cell disease, even if asymptomatic with 20/20 visual acuity.

Usefulness of cocaine drops in investigating infant anisocoria.

INTRODUCTION: Whereas apraclonidine has eclipsed cocaine test in the exploration of unilateral miosis in adults, its use in infants is avoided because of the risk of central nervous system depression. This chart review evaluates the usefulness of cocaine drops in infants. METHODS: Infants under the age of one referred for unilateral miosis between November 1, 2009 and November 1, 2015, were reviewed. Patients underwent the following protocol: (1) in case of isolated miosis, cocaine test was performed. If the miotic pupil did not dilate, imaging was performed. Dilation in both eyes led to simple clinical follow-up. (2) In case of miosis associated with ptosis or iris heterochromia, imaging of the brain, neck and chest was directly performed. RESULTS: Twenty-six children were included. Twenty-two presented an isolated miosis; three had ipsilateral ptosis, and one had no pupillary light reflex in the miotic eye. Cocaine tests performed in the 22 patients led to imaging in four, which was always normal. No side effect of the test was noticed. Imaging found one neuroblastoma and one intraorbital hemolymphangioma in two patients presenting miosis plus another sign. Imaging was avoided for 18 patients thanks to negative cocaine test. DISCUSSION: Urgent imaging is mandatory in infants presenting with miosis associated with other localizing sign on the sympathetic nerve pathway (Horner syndrome). Since the uselessness of complementary investigations in isolated infantile miosis cannot be proven so far, cocaine test remains the gold standard, as it is safe, cheaper and less stressful than systematic imaging.

Pseudo-accommodation in non-amblyopic children after bilateral cataract surgery and implantation with a monofocal intraocular lens: prevalence and possible mechanisms.

BACKGROUND: Some pseudophakic patients implanted with a monofocal intraocular lens (IOL) have good near visual acuity (VA) with their distance correction. The objective was to evaluate the prevalence of pseudo-accommodation in children after bilateral cataract surgery, without amblyopia, and to define its mechanisms. METHODS: Observational study that took place in a pediatric ophthalmology department, Paris, France. A total of 68 eyes were included, 40 from 23 children and 28 from 14 adults, with a corrected distance VA above 20/25 and a normal near VA (20/25) with +3 addition. Pseudo-accommodation was defined as a near VA better than 20/50 with the distance correction and without addition. Prevalence of pseudo-accommodation was calculated in each group. In order to determine the possible mechanisms of pseudo-accommodation in children, we compared children with pseudo-accommodation and adults without pseudo-accommodation regarding several parameters: refraction, axial length, corneal topography, aberrometry, pupillary diameter and IOL shift after cyclopentolate instillation. RESULTS: Among the children group, 36 (90 %) had pseudo-accommodation versus 2 (7 %) in the adult group. We found that spherical equivalent, implant power, corneal multifocality and corneal higher-order aberrations (mainly coma and trefoil) were significantly higher in the pseudo-accommodation group, while pupil diameter and implant shift were not significantly different. CONCLUSIONS: Pseudo-accommodation has a high prevalence among non-amblyopic pseudophakic children. Several possible mechanisms have been found to explain pseudo-accommodation in children: a high power of the IOL and a small axial length, maximizing the effect of the IOL shift, corneal multifocality and corneal higher-order aberrations.