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 PARTICIPANTSThis 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 MEASURESThe 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.

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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.

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.

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