Sickle Cell Retinopathy – July 2015

July 2015

Case History

A 25 year old African American male was referred to Illinois Retina Associates for two ‘lesions’ in his left eye. The patient reports no visual or systemic complaints. He presented to the referring optometrist’s office for new contact lens prescription. The left eye had two elevated pale lesions in the mid-periphery. The fellow eye was unremarkable.

Further History

The patient has a history of sickle cell trait (SS genotype). He is otherwise healthy.

Diagnostic Testing

The only significant clinical findings were two slightly raised lesions in the mid periphery of the left fundus (Figure 1). They had a pale appearance with no associated hemorrhage or pigmentation. Fluorescein angiography (FA) revealed no signs of leakage (specifically, no signs of neovascularization), however there appeared to be patches of nonperfusion within the location of the pale patches identified (Figure 2) indicated possible ischemia.

Interestingly, spectral domain optical coherence tomography (OCT) through the area highlighted the preretinal nature of the lesion with scattered hyperreflectivity and shadowing (Figure 3).

Figure1
Figure1
Figure 2
Figure 2
Figure 3
Figure 3

 

Differential Diagnosis:

Potential causes of an elevated retinal lesion in a young male include infectious (Toxoplasmosis or Toxocara), neoplastic (nevus), or vascular (macro aneurysm, retinal hemorrhage, pre retinal hemorrhage).

Diagnosis:

Sickle Cell Retinopathy
Given the patient’s age, race, medical history, and FA findings, the patient most likely has early sickle cell retinopathy. Although the clinical appearance does not completely resemble the typical sickle cell retinopathy picture, the left eye findings likely represent an early glimpse at the evolution of the disease.The lesions identified in his left eye likely are early changes consistent with a salmon patch hemorrhage, a well circumscribed pre-retinal hemorrhage between the retina and internal limiting membrane.

Treatment and Follow-Up:

Due to lack of neovascularization identified on angiography, the treatment plan for this patient was to simply observe. The patient was told to follow up in several months at which time the lesions appear to be maturing with early pigmentation consistent with an early salmon patch hemorrhage. The initial pale appearance (Figure 1) has resolved leaving a mottled pigmentation as the hemorrhage resolved (Figure 4).The patient carried the SS sickle trait which carries a better prognosis compared to the SC sickle trait.

Figure 1
Figure 1
figure 4
Figure 4

 

Discussion:

The ocular manifestation of sickle cell disease are secondary to mutations in the beta-globin gene leading to an altered version of hemoglobin, rendering abnormally shaped blood vessels. Vascular occlusion of vessels can occur in the anterior segment, as well as the posterior segment in the retina or choroid.

Posterior segment abnormalities include retinal and choroidal vascular occlusions, non-proliferative and proliferative retinal vascular changes, sickling maculopathy as well as optic nerve abnormalities.

Retinal vascular occlusions are most commonly arterial, but retinal vein occlusions have been reported. Sickling maculopathy can result in diabetic-like retinal changes which may cause foveal avascular zone enlargement. Patients can also suffer from an infarct to the macula.

There are a number of classic non-proliferative changes in sickle cell retinopathy including venous tortuosity, salmon patch hemorrhages, and black sunbursts. Venous tortuosity is thought secondary to arteriovenous shunting. Salmon patch hemorrhages are superficial retinal hemorrhages alike those scene in ocular ischemic syndrome. Black sunbursts are focal chorioretinal scars secondary to retinal pigment epithelial proliferation which can be seen near the equator. Angioid streaks have been associated with sickle cell disease and can predispose patients to choroidal neovascularization.

Proliferative changes can occur in sickle cell disease and is most common in individuals with hemoglobin SC, although these changes can occur in every form of the disease. Goldberg et al. classified proliferative sickle cell retinopathy into five stages.

Stage 1 involves peripheral arteriolar vascular occlusion, while this progresses to arteriolar-venular anastamosis in stage 2 with ensuing peripheral non-perfusion. Neovascularization marks stage 3 and tends to occur at the junction of vascular and avascular retina. The retinal tufts which arise resemble “sea fans”. Vitreous hemorrhage from the neovascularization marks stage 4 and stage 5 is the most severe form in which patients suffer a retinal detachment.

There are excellent new technologies, most notably wide-field fundus photography and angiography which allow retinal specialists to detect, categorize and treat these patients appropriately.

Jackson H. Bentley CR, Hingorani M, Atkinson P, Aclimandos WA, Thompson GM. Sickle retinopathy in patients with sickle trait. Eye (Lond). 1995;9 (Pt 5):589-93.

Atkinsola FB, Kehinde MO. Ocular findings in sickle cell disease patients in Lagos. Niger Postgrad Med J. Sep 2004;11(3):203-6.

Gagliano DA, Goldberg MF. The evolution of salmon-patch hemorrhages in sickle cell retinopathy. Arch Ophthalmol. 1989;107:1814-5.

A.J. Witkin, A.H. Rogers, T.H. Ko, J.G. Fujimoto, J.S. Schuman, and J.S. Duker, “Optical coherence tomography demonstration of macular infarction in sickle cell retinopathy,” Archives of Ophthalmology, vol. 124, no. 4, pp. 746-747, 2006.

Goldberg MF. Natural History of Untreated Proliferative Sickle Retinopathy. Arch Ophthalmol. 1971;85(4):428-437