Ocular manifestations of sickle cell disease and genetic susceptibility for refractive errors

• Published in: Taiwan journal of ophthalmology Vol. 7; no. 2; pp. 89 - 93
• Main Authors: Shukla, Palak, Verma, Henu, Patel, Santosh, Patra, P K, Bhaskar, L V K S
• Format: Journal Article
• Language: English
• Published: India Medknow Publications and Media Pvt. Ltd 01.04.2017; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Development and progression; Disease susceptibility; Eye; Genetic aspects; Health aspects; IL4; Medical examination; Medical research; Medicine, Experimental; NOS3; Original; Refractive errors; retinopathy; Sickle cell anemia; sickle cell disease; Illinois; India; IL4; NOS3; retinopathy; refractive errors; sickle cell disease
• ISSN: 2211-5056; 2211-5072
• DOI: 10.4103/tjo.tjo_3_17

Sickle cell disease (SCD) is the most common and serious form of an inherited blood disorder that lead to higher risk of early mortality. SCD patients are at high risk for developing multiorgan acute and chronic complications linked with significant morbidity and mortality. Some of the ophthalmological complications of SCD include retinal changes, refractive errors, vitreous hemorrhage, and abnormalities of the cornea. The present study includes 96 SCD patients. A dilated comprehensive eye examination was performed to know the status of retinopathy. Refractive errors were measured in all patients. In patients with >10 years of age, cycloplegia was not performed before autorefractometry. A subset of fifty patients' genotyping was done for 27-base pair (bp) variable number of tandem repeat (VNTR) and intron-3 VNTR polymorphisms using polymerase chain reaction-electrophoresis. Chi-square test was performed to test the association between the polymorphisms and refractive errors. The results of the present study revealed that 63.5% of patients have myopia followed by 19.8% hyperopia. 27-bp VNTR genotypes significantly deviated from Hardy-Weinberg equilibrium ( < 0.0001). Although 70-bp VNTR increased the risk of developing refractive errors, it is not statistically significant. However, 27-bp VNTR significantly reduced the risk of development of myopia. In summary, our study documents the prevalence of refractive errors along with some retinal changes in Indian SCD patients. Further, this study demonstrates that the VNTR contributes to the susceptibility to development of myopia in SCD cases.