Vianna R N, Pacheco D F, Vasconcelos M M, de Laey J J
Department of Ophthalmology, Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil.
Int Ophthalmol. 2001;24(2):63-6. doi: 10.1023/a:1016316114746.
Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet.
We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes.
The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings.
Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.
视网膜肿瘤偶尔见于1型神经纤维瘤病（NF-1）患者。这些肿瘤通常是星形细胞错构瘤或血管瘤。视网膜与视网膜色素上皮联合错构瘤也是NF-1中描述的肿瘤，但这种关联尚未得到明确证实。
我们报告了一名患有NF-1的儿童，其双眼均出现视网膜与视网膜色素上皮联合错构瘤。
我们患者双侧视网膜与视网膜色素上皮联合错构瘤的诊断是基于病变的检眼镜表现做出的。NF-1是根据当前国际临床标准并辅以神经影像学检查结果而确诊的。
尽管这种关联极为罕见，但我们认为这并非巧合，因为在患有系统性错构瘤性神经外胚层疾病的患者中出现错构瘤性视网膜病变至少是合理的。因此，对于患有视网膜与视网膜色素上皮联合错构瘤的患者，必须排除NF-1。
