Spectrum of Ophthalmic Manifestations in Patients With Transfusion-Dependent Thalassemia

Thalassemia is a hereditary blood disorder characterized by impaired hemoglobin production, necessitating regular blood transfusions to manage anemia and associated complications. This condition also poses a significant risk for a range of ophthalmic manifestations due to factors such as iron overload from repeated transfusions, organ dysfunctions, and metabolic imbalances. This research aimed to evaluate the prevalence of ophthalmic anomalies in patients with transfusion-dependent thalassemia (TDT) and to ascertain their correlation with serum ferritin levels, hemoglobin concentrations, and the length of chelation therapy.

This cross-sectional study was carried out at a tertiary care center in Central India in the pediatric and ophthalmology departments. All patients diagnosed with beta-thalassemia major between the ages of one and 15 were included in the study. Written informed consent was taken from the parents of participants. Patients with congenital ocular abnormalities, patients with a history of ocular trauma and surgery, and patients with hemoglobin diseases other than beta-thalassemia major were excluded. Complete medical history, including the disease's onset and course, blood transfusion frequency, splenectomy (performed or not), iron-chelating agents (nature, amount, time, and adherence to the regimen), positive consanguinity, and related conditions in the family, was recorded from the parents of every child. The ocular examination consisted of refraction, visual acuity, fundoscopy, slit-lamp examination, tonometry, perimetry in glaucoma suspects, tear break-up time (TBUT) test, and color vision testing. The data were analysed using the Statistical Product and Service Solutions (SPSS, version 19; IBM SPSS Statistics for Windows, Armonk, NY) software.

Mean (±standard deviation) age of study participants was 8.10±3.83 years (age range: 1.5-14 years). Males comprised a smaller proportion of study participants than females, at 44% and 56%, respectively. We found one or more ocular manifestations in 38 (76%) of the patients, whereas the remaining 12 (24%) had none. Among all the ophthalmic manifestations, refractive errors were found in 56% of patients, followed by vascular tortuosity (32%). In this study, black pigmentation near the optic disc was found in 12% (6) of the patients, 4% had optic disc edema, and 4% had a high cup disc ratio. Yellowish pigmentation of the conjunctiva was seen in 8% of the patients, and 4% had dry eyes with TBUT shorter than 10 seconds.

Ophthalmic manifestations such as refractive errors, vascular tortuosity, pigmentation near the optic disc, and disc edema are common findings in thalassemia patients. This comprehensive study highlights the importance of regular ophthalmic evaluations in TDT patients, emphasizing the need for an interdisciplinary approach that includes hematologists and ophthalmologists. Early detection and management of ophthalmic complications can significantly enhance a patient's quality of life and preserve vision. Future research should focus on understanding the underlying mechanisms of these ocular manifestations and developing targeted interventions to mitigate their impact.