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Healthy man referred for painless blurry central vision
We describe a case in which our patient presented with dense lipid exudation into the macula with classic manifestations of a retinal vascular disease but was outside of the usual demographic of this disease. We describe our workup and management of this patient, a case in which early diagnosis and treatment enabled the patient to achieve a good visual outcome.
The case
A 27-year-old African-American man was referred for painless blurry central vision in the left eye for approximately 3 weeks. The patient was otherwise healthy and denied any headaches or recent trauma. A complete review of systems and family history was negative. There was no significant ocular history.
Visual acuity without correction was 20/20 in the right eye and 20/200 in the left eye. Pupils were reactive without an afferent pupillary defect in either eye. IOP was 15 mm Hg in the right eye and 10 mm Hg in the left eye. Confrontational visual fields were grossly full in both eyes, and extraocular motility was normal. Anterior segment exam of both eyes was normal. The patient’s blood pressure was normal.
Posterior segment exam of the left eye demonstrated a star-shaped exudative pattern with dense lipid and thickening of the macula. Along the superior venous arcade there was an area with perivenous sheathing, telangiectasias, focal dilatation of the vessels, and focal aneurysms along the course of the vein (Figure 1). The nasal retinal vasculature appeared normal. The media was clear in both eyes, and the optic nerve in both eyes appeared healthy with a 0.1 cup-to-disc ratio. There was no optic nerve swelling or neovascularization in either eye. The posterior segment exam of the right eye was normal.
Optical coherence tomography of the left eye demonstrated lipid, intraretinal and subretinal fluid in the macula with an abnormal foveal contour (Figure 2). OCT of the right eye showed no intraretinal or subretinal fluid.
Figure 1. Fundus photo of the left eye at presentation demonstrates a star-shaped exudative pattern with dense lipid and thickening of the macula. Venous sheathing, telangiectasias and aneurysms are along the superior arcade. Visual acuity is 20/200. Figure 1a. Wide-field image. Figure 1b. Macula-focused image.
Images: Shieh C, Mruthyunjaya P
Figure 2. SD- OCT of the left eye demonstrates intraretinal hyperreflective lipid deposits and intraretinal and subretinal fluid in the macula with an abnormal foveal contour.
Figure 3. Fluorescein angiogram of the left eye shows venous telangiectasias, focal aneurysms and venous sheathing superiorly. Areas of capillary non-perfusion are seen around the vessels, and three areas of leakage from abnormal vasculature are noted above the superior arcade.
Fluorescein angiogram of the right eye showed normal arteriole and venous filling time with no abnormal blood vessels. However, in the left eye there was blocked fluorescence corresponding to lipid in the macula with early hyperfluorescence demonstrating venous telangiectasias, bulb-like aneurysms temporal to the fovea and venous staining. There were also areas of extramacular capillary non-perfusion around the vessels and three areas of leakage from abnormal vasculature above the superior arcade, which were felt to be the sources of the exudate (Figure 3).
Systemic evaluation was performed, and the patient had a normal chest X-ray, negative RPR and negative FTA-ABS. His comprehensive metabolic panel was normal, with a borderline-elevated creatinine at 1.2. Complete blood count and lipid panel were within normal limits, and hemoglobin A1c was 5.6.
The diagnosis
Coats’ disease is a sporadic nonhereditary condition with retinal telangiectasias and intraretinal and subretinal exudates. It typically is a unilateral condition that affects male patients in childhood, with a mean age of diagnosis at 10 years old. Our patient represented an adult-onset case, only a few cases of which have been reported in the literature.
The pathology arises from a breakdown of the blood-retinal barrier, resulting in aneurysms as well as vessel closure and ischemia. The loss of endothelial cells leads to leakage of lipid exudates, resulting in retinal thickening. Young patients can present with leukocoria, decreased vision and strabismus, but these dramatic findings are uncommon in adult-onset cases. Corneal edema, iris heterochromia and pain can be seen in advanced disease in which anterior segment neovascularization and secondary glaucoma are present. The staging of Coats’ disease has helped standardize diagnosis and care, ranging from the typical retinal telangiectasias seen in stage 1, to the presence of telangiectasias as well as exudates in stage 2 (2A extrafoveal exudates or 2B foveal exudates, as in our patient), to advanced end-stage disease with a blind eye in stage 5.
The differential diagnosis for macular exudates with focal vascular dilation in adults is broad, ranging from more common causes such as diabetes, hypertension or radiation retinopathy to more rare causes of exudative retinopathies seen in systemic conditions, such as muscular dystrophy, familial renal-retinal dystrophy (Senior-Loken syndrome), Turner’s syndrome, Alport syndrome and aplastic anemia. Other diseases that should be considered include inflammatory conditions (eg, syphilis, sarcoidosis and tuberculosis) and retinal capillary or cavernous hemangiomatoses. In young children, it is important to rule out retinoblastoma, retinopathy of prematurity and familial exudative vitreoretinopathy. The clinical diagnosis in this case was made through the identification of the dilated vasculature with terminal bulb-like vessel dilations as seen best with angiography.
The treatment modalities for Coats’ disease depend on the severity. Laser photocoagulation is used for less severe exudates, with the switch to cryotherapy made when the extent of exudates prevents good laser uptake or in peripheral disease. In advanced cases in which exudative retinal detachments inhibit cryotherapy, vitreoretinal surgery may be required to drain the subretinal fluid. Intravitreal triamcinolone acetonide has been employed as an adjunctive therapy, demonstrating an improvement in visual acuity with absorption of subretinal fluid and macular exudates. Some reports have noted progression to traction retinal detachment from the steroid depot as a scaffold for proliferation. Anti-VEGF agents have also been utilized, with small case series and reports noting reduced macular edema and exudates as well as improved or stabilized visual acuity and regression of abnormal vessels. However, with the use of anti-VEGF agents, there also lies the potential for vitreoretinal fibrosis and traction retinal detachment.
Figure 4. Fundus photo of the left eye at last follow-up demonstrates a significant reduction in macular exudate. Focal laser scars are seen along the superior arcade.
Figure 5. SD-OCT images show normalization of the foveal contour, reduction in macular exudate and no subretinal fluid. Visual acuity is 20/40.
Our patient received four focal laser treatments to the left eye without adjuvant pharmacologic therapy. At his most recent exam, 1 year after the initial diagnosis, his photos and OCT images showed a decrease in macular exudate and no subretinal fluid (Figures 4 and 5). The patient’s uncorrected visual acuity had improved from 20/200 to 20/40 in the left eye. The patient’s visual prognosis is good because late-onset Coats’ disease typically has a less aggressive course. Clinical follow-up will continue routinely.