Margaret Manteaux* had her hands full from the start. Having one baby left little free time during the day, but twins made it impossible. What’s more, her fraternal twins, Jacob and John, had been born prematurely and kept in the neonatal ICU for several weeks before they were sent home.
Although the twins kept her busy, she always found time to take pictures of them. As she was taking pictures during their second birthday, she noticed that Jacob looked a little different. It almost appeared as if there was a “marble” in one of his eyes.
At first, she dismissed this. After all, both boys had been screened at birth for retinopathy of prematurity—and when they were discharged, they were found to have normal exams.
However, a few weeks later, she saw the “marble” again. This time, she took Jacob to his pediatrician, who confirmed that the boy’s left eye did not respond to visual stimuli and also had leukocoria. Jacob was then referred to the pediatric ophthalmologist, who found that his left eye had some reaction to light in the setting of a small-angle esotropia and afferent pupillary defect. Although the anterior segment exam of Jacob’s left eye was normal, there was a retinal detachment and possible mass lesion. The right eye was normal. Ultrasound confirmed the presence of a retinal detachment and also showed potential calcification. Jacob was subsequently referred to the Ocular Oncology Center, where we examined him under anesthesia.
Caption: 1A (left), 1B (right) The left eye showed an excudative detachment with
subretinal lipid exudates and telangiectatic retinal vessels.
We Get a Look
The exam of Jacob’s right eye showed a clear cornea, deep anterior chamber, normal iris and clear lens. On funduscopic exam, the optic nerve and macula were normal. Careful inspection of the peripheral retina did not show any vascular abnormalities.
The exam of his left eye showed a normal anterior segment without evidence of iris neovascularization or cataract. The funduscopic exam of this eye showed a total exudative retinal detachment extending to just behind the lens (Figs. 1a, 1b). The vessels were dilated and tortuous with areas of telangiectasia seen throughout the periphery. The subretinal space had numerous areas of yellow lipid exudates mixed with cholesterol crystals. There was no evidence of any mass lesions or tumors. Ultrasound was performed; it showed a retinal detachment but no evidence of any tumors. An MRI confirmed the presence of a retinal detachment with an increased signal intensity within the subretinal fluid on T1-weighted images (Fig. 2).
Weighing the Evidence
Leukocoria is a common presenting sign for a number of disorders. The differential diagnosis includes retinoblastoma, Coats’ disease, persistent fetal vasculature syndrome (PFV), toxocariasis and cataract.
In our patient, the presence of the exudative retinal detachment narrowed the list of suspects to Coats’ disease or retinoblastoma. With toxocariasis, the white reflex is a result of the intense vitritis that can accompany the infection. And while a retinal detachment may be present in PFV, the most prominent findings are a retrolental fibrous membrane and persistent fetal vessels in the anterior segment, which were absent in our patient.
Differentiating between retinoblastoma and Coats’ disease can be challenging. Both can present with exudative detachments. Both may have telangiectatic retinal vessels and regions of subretinal debris, and both occur in children. Moreover, calcification (seen on ultrasound) may be present or absent in both conditions.
However, the following may help pin down the diagnosis:
Imaging results. In patients with an exudative retinal detachment in the setting of retinoblastoma, the tumor is generally large and is easily identified on ultrasound. MRI also can be helpful primarily by showing the degree of lipid present in the subretinal fluid. The subretinal fluid in Coats’ disease tends to be filled with proteinaceous lipid, which is less common in retinoblastoma. As a result, the subretinal fluid in Coats’ usually has a high signal intensity on T1- and T2-weighted exams.
Caption: T1-weighted MRI imaging demonstrated a total exudative retinal detachment with increased signal intensity of the subretinal fluid.
Color. The color of the subretinal space can also vary. In the case of Coats’ disease, the subretinal space can take on a yellow-green tint similar to that of mustard. In contrast, in retinoblastoma, it tends to be whiter, like mayonnaise.
In our patient, the exudative detachment with telangiectatic vessels and absence of any detectable mass lesions and the high signal intensity on MRI confirmed the diagnosis of Coats’.
Treatment options for Coats’ disease range from observation to cryotherapy, laser photocoagulation or pars plana vitrectomy with drainage and laser photocoagulation. Laser photocoagulation or cryotherapy can be very effective for patients with limited involvement in which the retina remains relatively attached with only peripheral telangiectatic vessels. Both laser and cryotherapy destroy the leaking vessels; in turn, this results in resolution of the subretinal fluid.
In cases with large exudative detachments, the patient will require drainage of the subretinal fluid with possible vitrectomy prior to laser photocoagulation. For patients with advanced disease, in which there is a total detachment, afferent papillary defect and neovascular glaucoma, observation or enucleation may be considered.
In addition, careful attention must also be given to the other eye, as Coats’ will be present to some degree in the contralateral eye in 5 percent of patients.
Mrs. Manteaux was offered a number of options, including observation, enucleation or vitrectomy with drainage. Because the prognosis for functional vision was extremely poor regardless of surgery, she elected to have Jacob observed, with the understanding that his eye may develop glaucoma and phthisis and require enucleation.
Dr. Lee is assistant professor of ophthalmology at New York Presbyterian Hospital—Cornell University and Dr. Abramson is chief of the Ophthalmic Oncology Service at Memorial Sloan Kettering Cancer Center, New York. This paper is supported in part by a grant from the Samuel and May Rudin Family Foundation, New York.
* Patient names are fictitious.