Hemoglobinopathies: ocular manifestations in children and adolescents

Abstract

Hemoglobinopathies are genetic disorders that lead to abnormal structure of the hemoglobin molecule. Sickle cell disease, the most common inherited blood disorder, is characterized by defective oxygen transport. Almost every part of the eye can be affected by sickle cell disease; however, proliferative sickle cell retinopathy is the primary cause of vision loss, either from vitreous hemorrhage or retinal detachment. Here we review the various manifestations of hemoglobinopathies on the eyes of children and adolescents, with a specific focus on sickle cell disease and its different phenotypes. Newer, more sensitive ophthalmological imaging modalities, including ultra-widefield fluorescein angiography, spectral-domain optical coherence tomography, and optical coherence tomography angiography, are available. These sensitive modalities allow for a more thorough examination of the retinal periphery where sickle cell retinopathy is often present. Utilization of such modalities will help with the early detection of the disease in children, which provide a better understanding of the pathogenesis of the disease and guide future screening and treatment regimens.

Paracentral Acute Middle Maculopathy with Sickle Cell Trait

“…However, erythrocyte sickling and microvascular occlusive events have been reported with sickle cell trait in the presence of hypoperfusion, hypoxia, dehydration, or acidosis. Ocular manifestations of sickle cell anemia include peripheral retinal vascular occlusion and capillary dropout that may advance to proliferative sickle cell retinopathy if left untreated 4 ; however, reports of ocular vaso-occlusive events and retinopathy are rare in sickle cell trait. The rare cases of ocular complications in patients with sickle cell trait are reported in the context of trauma, obstructive sleep apnea, or an associated systemic disease such as systemic lupus erythematosus, pulmonary tuberculosis, diabetes, hypertension, or syphilis.…”

Rare Cause of Acute Loss of Vision in a Patient With Sickle Cell Trait

“…Sickle cell disease (SCD) is the most prevalent inherited blood disorder, characterized by ongoing hemolysis, damage to blood vessels, and reduced blood flow to various organs, leading to complications in multiple systems within the body [ 1 ]. In Black individuals in North America, the SCD incidence is close to 0.5%, and about 7-8% of the same population are carriers of the sickle cell trait [ 2 ].…”

Effect of Hemoglobinopathies on Adolescent's Behaviour at Heredity Blood Diseases Center

“…However, they don't happen very often in the US, where about 101,000 people are affected. 1 Hemoglobinopathies affect teenagers who have suffered from the condition since childhood and require a biopsychosocial strategy. The development of individualized objectives throughout the patient's life, such as illness control, overcoming particular obstacles, and obtaining maximum empowerment, can help them considerably in reaching the best quality of life and behaviors.…”