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Journal Article
Research Support, N.I.H., Extramural
Monitoring retinal pathology and cerebral injury in sickle cell disease using spectral-domain optical coherence tomography in pediatric patients.
Pediatric Blood & Cancer 2021 July
PURPOSE: This study aimed to confirm the correlation between sickle cell disease (SCD) genotype and retinal damage identified by spectral-domain optical coherence tomography (SD-OCT), and examine a potential link between hypoxic ischemic injury in the retina and brain.
METHODS: In this prospective, observational case series, 117 patients (56 males) aged 5-20 years with SCD (36 SC, 68 SS, eight Sβ+ thalassemia, five Sβ0 thalassemia) underwent ophthalmologic examination including funduscopy and SD-OCT imaging. Comparison of SCD genotypes and association between ocular findings and cerebrovascular disease (CVD) in subjects with SS/Sβ0 genotype were investigated.
RESULTS: Visual acuity ranged from 20/20 to 20/40. On funduscopic exam, 16 of 117 (13.7%) had retinopathy; 69 of 117 (59.0%) showed inner retina thinning on SD-OCT. Patients with SS/Sβ0 showed a higher frequency of sickle cell retinopathy (SCR) change (68.5% vs. 47.2%), bilateral SCR (49.9% vs. 25.0%), and foveal involvement (15.1% vs. 0) than the SC genotype. While funduscopic findings in our cohort with SS/Sβ0 genotype showed no correlation with CVD, 20 of 21 patients with CVD had abnormal SD-OCT. Elevated reticulocyte percentage and aspartate aminotransferase are associated with SD-OCT changes and CVD.
CONCLUSIONS: SD-OCT was better than funduscopy in detecting retinal changes, higher frequency, and more extensive retinal changes in the more severe SCD genotypes SS and Sβ0 as compared with SC. The correlation between abnormal SD-OCT and CVD strongly suggests that retinal exam using SD-OCT may aid in detection and monitoring SCD-related CVD. Retinopathy may be another component of the hemolytic subphenotype of SCD.
METHODS: In this prospective, observational case series, 117 patients (56 males) aged 5-20 years with SCD (36 SC, 68 SS, eight Sβ+ thalassemia, five Sβ0 thalassemia) underwent ophthalmologic examination including funduscopy and SD-OCT imaging. Comparison of SCD genotypes and association between ocular findings and cerebrovascular disease (CVD) in subjects with SS/Sβ0 genotype were investigated.
RESULTS: Visual acuity ranged from 20/20 to 20/40. On funduscopic exam, 16 of 117 (13.7%) had retinopathy; 69 of 117 (59.0%) showed inner retina thinning on SD-OCT. Patients with SS/Sβ0 showed a higher frequency of sickle cell retinopathy (SCR) change (68.5% vs. 47.2%), bilateral SCR (49.9% vs. 25.0%), and foveal involvement (15.1% vs. 0) than the SC genotype. While funduscopic findings in our cohort with SS/Sβ0 genotype showed no correlation with CVD, 20 of 21 patients with CVD had abnormal SD-OCT. Elevated reticulocyte percentage and aspartate aminotransferase are associated with SD-OCT changes and CVD.
CONCLUSIONS: SD-OCT was better than funduscopy in detecting retinal changes, higher frequency, and more extensive retinal changes in the more severe SCD genotypes SS and Sβ0 as compared with SC. The correlation between abnormal SD-OCT and CVD strongly suggests that retinal exam using SD-OCT may aid in detection and monitoring SCD-related CVD. Retinopathy may be another component of the hemolytic subphenotype of SCD.
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