Paramacular temporal atrophy in sickle cell disease occurs early in childhood

Background/aims Initially reported in a few patients with homozygous sickle cell disease (SCD), atrophic areas of the retina temporal from the macula are now known to be present in about 48% of eyes of adult patients with SS-SCD and in 35% of eyes of adult patients with SC-SCD. The aim of this study is to describe this paramacular atrophy in children affected with SCD. Methods In this retrospective series, spectral-domain optical coherence tomography images of 81 children with SCD, acquired with specific patterns including one evaluating the retina temporal to the macula, were reviewed, in order to look for retinal atrophy. Fundus examination status for SCD peripheral retinopathy was also reviewed. Results Mean age was 12.0 years (SD: 3.56). The genotype distribution was: 64 HbSS (79%), 10 HbSC (12%) and 7 HbS/beta(0) thalassaemia (9%). Using a usual fovea-centred programme, retinal atrophy was found in 38% of eyes (52% of children). Using a specific temporal pattern, retinal atrophy was found in 53% of eyes (64% of children), with no significant difference in the prevalence between HbSS and HbSC genotype (p=0.92), and no effect of age (mean 12.3 years (SD=3.61) vs11.9 (3.56), p=0.65). Peripheral retinopathy was found in 11% of children, with a significant relation between the HbSC genotype and the severity of the retinopathy (p=0.003). Conclusion Paramacular temporal atrophy occurs early in the course of SCD, which suggests distinct mechanisms from those of peripheral retinopathy.