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.

Keywords: hemoglobinopathies; ocular manifestations; sickle cell disease; sickle cell retinopathy.

Figure 1.

A widefield fundus photograph showing multiple salmon-patch hemorrhages (white arrows) as a result of peripheral arteriolar occlusion in a patient with sickle cell disease.

Figure 2.

Ultra-widefield fluorescein angiography showing large areas of peripheral non-perfusion (yellow asterisks), arteriolar occlusion (red arrow), and arteriovenous anastomosis (blue arrow) in a patient with sickle cell retinopathy.

Figure 3.

Ultra-widefield fluorescein angiography (left) and widefield fundus photography showing an area of sea-fan neovascularization (white arrow) surrounded by retinal laser photocoagulation marks (asterisks) in a patient with sickle cell retinopathy (Goldman stage III).

Figure 4.

Optical coherence tomography angiography demonstrating decreased vascular density (asterisk) in the superficial capillary plexus (a) and deep capillary plexus (b). Areas of vascular loss correspond to temporal macular thinning (white arrow) shown on spectral-domain optical coherence tomography (c).