Ocular Manifestations of Sickle Cell Disease in Different Genotypes

Ophthalmic Epidemiol. 2021 Jun;28(3):185-190. doi: 10.1080/09286586.2020.1801762. Epub 2020 Aug 6.


Background: Sickle cell disease (SCD) is a multisystemic disorder with variable systemic involvement which varies according to genotype. In this study, our aim is to compare ocular complications between HbSS, HbSC, HbS/β+ thalassemia, HbS/β0 thalassemia, SS alpha thalassemia, and S/β0 + alpha thalassemia genotypes.

Methods: Data of patients included in this study was recruited from the Cooperative Study of Sickle Cell Disease (CSSCD). Patients with major sickle cell hemoglobinopathies (SS, SC, Sβ- thalassemia, SS alpha thalassemia) were eligible for enrollment, after that, a detailed eye exam was performed. We categorized ocular complications into conjunctival sign, iris atrophy, and both proliferative and non-proliferative sickle cell retinopathy.

Results: A total of 1867 patients were included in this study, with a mean age of 27.7 (± 11.7) years. They were 830 (44.5%) males and 1037 (55.5%) females. The most common genotype was SS with 971 (52%) patients, and the least common form was sickle cell with both alpha and beta thalassemia major with 42 (2.2%) patients. We found a significant difference in the frequency of proliferative sickle cell retinopathy, where SC genotype had the highest frequency and S B0 thalassemia genotype had the lowest frequency. We also found a significant difference in the frequency of conjunctival sign, where SS genotype had the highest frequency and the S B+ thalassemia has the lowest frequency.

Conclusion: We identified ocular complications for major sickle cell hemoglobinopathies, where we confirmed previous small study's findings and identified ocular complications of less common hemoglobinopathies.

Keywords: Sickle cell; eye; genotype; ocular; retinopathy.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell* / complications
  • Anemia, Sickle Cell* / epidemiology
  • Anemia, Sickle Cell* / genetics
  • Conjunctiva
  • Female
  • Genotype
  • Hemoglobin, Sickle / genetics
  • Humans
  • Male
  • Retinal Diseases* / etiology
  • Retinal Diseases* / genetics
  • Young Adult


  • Hemoglobin, Sickle