Combined hamartoma of the retina and retinal pigment epithelium

We report the case of a 31-year-old man who developed a combined hamartoma of the retina and retinal pigment epithelium in the left eye. The diagnosis was determined based on alterations discovered on fundus examination: hyperplasia of the retinal pigment epithelium cells and tortuosity of the vessels and glial epiretinal membrane. These modifications made it possible to differentiate the hamartoma from choroidal melanoma. The patient underwent photocoagulation therapy. His death due to stroke 4 years after therapy made it possible to analyze the eyeball. Histopathological examination revealed alterations due to retinal photocoagulation as well as alterations particular to the primary tumor: hypertrophy of the retinal pigment epithelium and glial and vascular overgrowth.     

Combined hamartoma of sensory retina and retinal pigment epithelium

We report two cases of combined hamartoma of the sensory retina and retinal pigment epithelium (CHR-RPE) in which apparent growth of the lesion was observed. In case 1, the eye was enucleated with a presumed diagnosis of juxtapapillary malignant melanoma. Histopathologically, the enucleated globe showed an elevated peripapillary mass containing disorganized retinal tissue intermixed with vascular and glial elements as well as tubules of proliferating retinal pigment epithelium. We have summarized the clinical features of 53 patients with CHR-RPE reported between 1952 and 1988 excluding the cases compiled by the Macular Society Collaborative Study. While the latter study found an equal sex predilection among their cases, we found a 70% male preponderance among the 53 patients. Of the 54 lesions observed in 53 patients, 76% were juxtapapillary, 17% were macular, and 7% were peripheral. Furthermore, periodic follow-up examination disclosed apparent enlargement of the mass in six patients, five of whom underwent enucleation of the globe for suspected melanoma.     

Combined hamartoma of the retinal pigment epithelium and sensory retina

Combined hamartomas of the retinal pigment epithelium and sensory retina are congenital abnormalities which may occur anywhere in the fundus. This case report presents a young, otherwise healthy male with a unilateral example of combined hamartoma of the retinal pigment epithelium and sensory retina located in the juxtapapillary and macular areas.     

Combined hamartoma of the retina and retinal pigment epithelium of the juxtapapillary retina and optic disc

An 11-year-old Japanese girl had a greenish-gray, slightly elevated lesion at the optic disc and juxtapapillary retina of the right eye that was diagnosed as a combined hamartoma of the retina and retinal pigment epithelium. A gliotic epiretinal membrane partially covered the lesion. Tortuous retinal vessels, which leaked fluorescein dye, were noted ophthalmoscopically. The lesion remained stable during a follow-up period of 1 year. After reviewing the Japanese literature, we concluded that the combined hamartoma may not be as rare in Japan as previously thought.     

Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1

Background: 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. Method: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. Results: 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. Conclusion: 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.     

Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis

Combined hamartoma of the retina and retinal pigment epithelium has been described as a rare, benign tumor formed by an overgrowth of several constituents of the retina such as the retinal pigment epithelial cells, vascular elements, and glial components.1 Despite its varied clinical appearance it is important to recognize this tumor as it is known to simulate intraocular malignancies like retinoblastoma and choroidal melanoma.     

Combined hamartoma of the retina and retinal pigment epithelium diagnosed by retinal angiography and optical coherence tomography

CLINICAL CASE: This report is based on the case of a 35-year-old woman who developed a combined hamartoma of the retina and retinal pigment epithelium in her right eye. The diagnosis was determined based on the fundus examination: hyperplasia of the retinal pigment epithelium cells, tortuosity of the vessels and epiretinal membrane. DISCUSSION: Optical coherence tomography and retinal angiography are important to rule out malignant melanoma of the choroid and retinoblastoma. Regular follow-up is essential because reduction in visual acuity can be related to an epiretinal membrane, neovascular membrane or vitreous hemorrhage.     

Combined hamartoma of the retina and retinal pigment epithelium associated with juvenile nasopharyngeal angiofibroma.

PURPOSE: To report a patient who had concomitant combined hamartoma of the retinal pigment epithelium and retina and juvenile nasopharyngeal angiofibroma. METHOD: Case report. RESULTS: An 18-year-old man presented with a juvenile nasopharyngeal angiofibroma and a combined hamartoma of the retina and retinal pigment epithelium in the ipsilateral eye. The diagnosis of juvenile nasopharyngeal angiofibroma was confirmed by histopathology, and the diagnosis of combined hamartoma was established by typical ophthalmoscopic and fluorescein angiographic findings. CONCLUSION: Juvenile nasopharyngeal angiofibroma may be associated with combined hamartoma of the retina and retinal pigment epithelium.     

Combined hamartoma of the retina and retinal pigment epithelium as the presenting sign of neurofibromatosis-1

The authors report a case of combined harmartoma of the retina and retinal pigment epithelium in a 6-year-old child as the presenting sign of neurofibromatosis-1. The patient was followed closely for three years but received no treatment. Observation over these years revealed no significant change in the patient's visual acuity. A referral to the University of California San Francisco (UCSF) Neurofibromatosis Clinic resulted in a diagnosis of neurofibromatosis (NF)-1, and she continues to be observed for further systemic manifestations of this disease. Combined hamartoma of the retina and retinal pigment epithelimicrom, a rare and benign tumor, can be easily mistaken for malignant processes such as retinoblastoma or choroidal melanoma. Ophthalmologists should also be aware of the association with neurofibromatosis and consider this diagnosis when such retinal findings are observed in a child.     

Combined hamartomas of the retina and retinal pigment epithelium

Combined hamartomas of the retina and retinal pigment epithelium are rare fundus lesions. By combining cases seen by members of The Macula Society, clinical data was collected on 60 patients with combined hamartomas. We reviewed the clinical presentations, ophthalmoscopic, and fluorescein angiographic features and differential diagnosis of this tumor. Of 41 patients with adequate follow-up information, 10 (24%) lost at least two lines of visual acuity, usually due to tractional distortion of the fovea, and four (10%) had improved visual acuity following either amblyopia therapy or vitreous surgery for macular traction.     

视网膜和视网膜色素上皮联合错构瘤的研究进展

视网膜和视网膜色素上皮联合错构瘤（combined hamartoma of the retina and retinal pigment epithelium,CHRRPE）是一种少见的眼部良性肿瘤,可累及视盘、黄斑或周边视网膜,常见于儿童,其临床特征为瘤体位于视网膜,隆起,有不同程度的色素增生、血管迂曲及视网膜前膜形成.组织病理学检查显示CHRRPE主要由杂乱的胶质、视网膜血管及增生的视网膜色素上皮细胞构成.相干光断层扫描有助于本病的诊断,并可指导治疗.玻璃体切除联合视网膜前膜剥除术可在一定程度上恢复患眼的视网膜结构,稳定或提高视力。     

Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization

PURPOSE: To describe a case of presumed combined hamartoma of the retina and retinal pigment epithelium associated with preretinal neovascularization. DESIGN: Observational case report. METHODS: We report clinical and angiographic findings of a 26-year-old woman. RESULTS: The patient presented with mild vitreous hemorrhage and slowly decreasing vision in the right eye. A combined hamartoma of the midperipheral retina and retinal pigment epithelium with an epiretinal membrane causing traction to the macula was found. Fluorescein angiography showed areas of capillary nonperfusion and a large preretinal neovascularization peripheral to the hamartoma. CONCLUSIONS: A combined hamartoma may be associated with retinal capillary nonperfusion and preretinal neovascularization, suggesting that significant retinal ischemia can occur with a combined hamartoma.     

拟诊视网膜和视网膜色素上皮联合错构瘤的临床特征分析

目的 探讨视网膜和视网膜色素上皮联合错构瘤(CHRRPE)的临床表现及诊断和鉴别诊断要点.方法 回顾性病例系列研究.收集北京协和医院眼科自2001年11月至2008年7月拟诊为CHRRPE患者5例临床资料,分析其临床表现、眼底特征以及荧光素眼底血管造影(FFA)、相干光断层扫描(OCT)和B超扫描结果.结果 5例患者均为男性,年龄6～18岁,平均12岁,均为单眼发病,无合并全身性疾病.就诊原因包括视力下降、视物变形以及家长发现斜视.就诊时视力0.06～0.4.病变部位包括视乳头及邻近视网膜和黄斑部位.眼底表现为病变处轻度隆起,不同程度的色素增生;视网膜血管迂曲以及视网膜前膜形成.FFA动脉期病变部位脉络膜背景低荧光;静脉期可见视网膜血管迂曲,毛细血管扩张膨隆,并出现荧光素渗漏,晚期渗漏增强.OCT表现视网膜层次结构模糊,视网膜内层呈强反射信号的隆起性病变,病变下方的组织呈现弱反射信号.B超扫描表现为轻度隆起的实性病变.结论 CHRRPE易与其他眼底占位性病变相混淆,诊断主要根据眼底表现及FFA、OCT检查,而B超扫描可用于鉴别诊断.