title: Genotypic evaluation of ocular pathologies in sickle cell diseases.
abstract: Sickle cell disease patients are known to manifest different types of ocular problems. These problems include proliferative and non-proliferative retinopathies, and refractive errors. The distribution of these pathologic and refractive problems among the sickle cell genotypes is analyzed according to the individual genotypes. Data collected from a total of 63 sickle cell disease patients who responded to the questionnaires shows that fifty-six percent (35) are males and forty-four percent (28) are females. The genotype distributions are: SS, 55% (34); SC, 33% (21); S-Thal, 11% (7); while 2% (1), is AS-genotype. Overall findings show that severe ophthalmic abnormalities were reported by approximately 90% of the respondents with sickle cell disease. The majority of sickle cell disease patients in this research show consistent susceptibility to both fungal and bacterial infections with varying degree of refractive errors. It is observed that refractive errors are prevalent in SC and S-Thal sickle cell genotypes, while the severity of anemia and painful crises are more prevalent in SS and S-Thal genotypes. Systemic ocular problems are also prevalent among the SC and S-Thal disease genotypes.
authors.affiliation: Department of Vision Sciences, Aston University, Birmingham, U.K.
authors.forename: E
authors.initials: E
authors.lastname: Anyanwu
authors.forename: S O
authors.initials: SO
authors.lastname: Fadulu
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000755:Anemia, Sickle Cell / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D012030:Refractive Errors / Q000150:complications / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications / Q000473:pathology*; D017678:Sex Distribution