Ocular Manifestations of Sickle Cell Disease in Different Genotypes

AlRyalat, Saif Aldeen; Jaber, Bahaa Al-Din; Alzarea, Abdulaziz A; Alzarea, Abdullah; Alosaimi, Wejdan A; Saad, Mouna Al

doi:10.1080/09286586.2020.1801762

Cited by 5 publications

(2 citation statements)

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“…Previous studies have found that patients with variant genotypes appear to be at increased risk of SCR and PSCR compared with those with the SCA genotypes [10,13,[18][19][20]44]. Our study found a similar association in a univariate analysis, but, after accounting for other factors, genotype was not significantly associated with retinopathy or more severe eye disease.…”

Section: Discussionsupporting

confidence: 81%

Risk factors associated with sickle cell retinopathy: findings from the Cooperative Study of Sickle Cell Disease

et al. 2022

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Background Sickle cell retinopathy (SCR) is one of the most important ocular manifestations of sickle cell disease (SCD). This study aims to assess the prevalence of SCR in SCD, identify risk factors for its development and progression to proliferative sickle cell retinopathy (PSCR), and evaluate the potential implications of these results on clinical practice. Methods This research is a secondary analysis of patients diagnosed with SCD from the epidemiological, multicenter Cooperative Study of Sickle Cell Disease (CSSCD). We included all patients who completed a full ophthalmic evaluation. We identified clinical and laboratory SCD characteristics associated with SCR using multivariate logistic regression models. Proliferative sickle cell retinopathy (PSCR) was diagnosed according to the Goldberg classification system. Results Of the 1904 study participants with SCD who met the inclusion criteria, 953 (50.1%) had retinopathy; of which 642 (67.3%) had bilateral disease. SCR was associated with older age (p < 0.001), history of smoking (p = 0.001), hematuria (p = 0.050), and a lower hemoglobin F (HbF) level (p < 0.001). PSCR risk increased with smoking (p = 0.005), older age (p < 0.001) higher hemoglobin level (p < 0.001) and higher white blood cell count (p = 0.011). Previous blood transfusion (p = 0.050), higher reticulocyte count (p = 0.019) and higher HbF level (p < 0.001) were protective factors against the development of PSCR. Ocular symptoms were associated with progression to PSCR in patients with SCR (p = 0.021). Conclusion In this cohort of individuals with SCD, half of the participants had signs of SCR. Smoking and blood hemoglobin level were the two modifiable risk factors associated with increased retinopathy progression. Screening to identify the different stages of retinopathy, actively promoting smoking cessation, and optimizing the hematological profile of patients with SCD should guide treatment protocols designed to prevent the vision-threatening complications of the disease.

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Section: Discussionsupporting

confidence: 81%

Risk factors associated with sickle cell retinopathy: findings from the Cooperative Study of Sickle Cell Disease

et al. 2022

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“…The general understanding is that patients with the SC genotype, although usually exhibiting less severe clinical manifestations, were more frequently diagnosed with SCR by funduscopy and fluorescein angiography (FA), and tended to develop vision-threatening proliferative SCR more often than those with SS disease. [5][6][7][8] In the past 20 years, optical coherence tomography (OCT) retinal imaging has been widely used in ophthalmology clinics and offers new information on retinal microanatomy change in SCR. OCT is a noninvasive imaging technique that uses light waves to take cross-sectional pictures of the retina with micrometer resolution.…”

Section: Introductionmentioning

confidence: 99%

Monitoring retinal pathology and cerebral injury in sickle cell disease using spectral‐domain optical coherence tomography in pediatric patients

Jin

Kandula

Miller

2021

Pediatric Blood & Cancer

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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.

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Yanoff,

Sassani

2025

Ocular Pathology

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Ocular Manifestations of Sickle Cell Disease in Different Genotypes

Cited by 5 publications

References 20 publications

Risk factors associated with sickle cell retinopathy: findings from the Cooperative Study of Sickle Cell Disease

Risk factors associated with sickle cell retinopathy: findings from the Cooperative Study of Sickle Cell Disease

Monitoring retinal pathology and cerebral injury in sickle cell disease using spectral‐domain optical coherence tomography in pediatric patients

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