Combined Hamartoma Of The Retina And Retinal Pigment Epithelium Research Articles

Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium

PurposeTo investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies. MethodsThis retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings. ResultsAll eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other. ConclusionsThis study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development.

Epiretinal Membrane of Combined Hamartoma of Retina and Retinal Pigment Epithelium Versus Idiopathic Epiretinal Membrane

Purpose: To evaluate the postoperative changes in macular vessel density and the multifocal electroretinogram (mfERG) in the epiretinal membrane (ERM) of a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). And we compared these results with those of idiopathic ERM.Method: We retrospectively reviewed the records of 15 patients (15 eyes) with an epiretinal membrane of a CHRRPE, and 21 patients (21 eyes) with idiopathic ERM who were treated with pars plana vitrectomy and removal of the ERM. The best corrected visual acuity, central macula thickness, foveal and perifoveal vessel density, foveal avascular zone (FAZ), and mfERG rings 1 and 2 P1 amplitudes were analyzed before and 6 months after ERM removal.Results: The average macular vessel density in the CHRRPE with ERM was reduced (p = 0.047) compared to an idiopathic epiretinal membrane, but the central foveal vessel density was significantly increased (p = 0.003). In CHRRPE, the preoperative FAZ was significantly reduced, and while it increased significantly 6 months postoperatively. After removing the ERM, the P1 amplitude increased significantly on mfERG, but there was no significant difference compared to the idiopathic ERM.Conclusions: The macular mean superficial capillary plexus (SCP) vascular density was reduced in CHRRPE and the foveal SCP vascular density and FAZ were increased. Considering the increased size of the FAZ area after surgery, physical removal of the ERM affected the structural recovery of the fovea, but resulted in no significant improvement of the macular superficial microvascular system.

Hamartomas of the Retina and Optic Disc.

Hamartomas are local malformation of cells that demonstrate abnormal proliferation in the area where they are normally present. Retinal and optic disc hamartomas include astrocytic hamartoma, congenital hypertrophy of the retinal pigment epithelium (CHRPE), simple congenital hamartoma of the retinal pigment epithelium (CSHRPE), combined hamartoma of the retina and retinal pigment epithelium (CHRRPE), retinal hemangioblastoma (retinal capillary hemangioma), and retinal cavernous hemangioma. Retinal and optic disc hamartomas can be observed sporadically as well as with systemic associations. Astrocytic hamartoma usually appears as a flat, transparent yellowish lesion. CHRPE is a round, pigmented, and flat lesion. CSHRPE usually presents as a dark black macular tumor. CHRRPE consists of vascular, glial, and pigment epithelial components, which can demonstrate peripapillary, macular, and peripheral localization. Retinal hemangioblastoma is a vascular tumor, red-pink in color with tortuous and dilated afferent and efferent vessels, typically located in the peripheral retina or optic disc. Retinal cavernous hemangioma is characterized by the formation of thin-walled saccular angiomatous structures in the retina or optic nerve head resembling concord grapes. Ultrasonography, fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography, and fluorescein angiography methods are used in the diagnosis of retinal and optic disc hamartomas. Some retinal and optic disc hamartomas do not require treatment. However, complications including vitreous hemorrhage, macular exudation, retinal detachment, macular hole, epiretinal membrane, and choroidal neovascularization require treatment.

Common clinical features of unilateral retinal pigment epithelium dysgenesis and combined hamartoma of the retina and retinal pigment epithelium

BackgroundHerein, we report two cases of unilateral retinal pigment epithelium dysgenesis (URPED) in Chinese patients and explore the relationship between URPED and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).Case presentationThe lesion margins in the two cases showed pathognomonic clinical features of URPED, namely, a scalloped reticular margin in hyperplastic retinal pigment epithelium and mild fibrosis. The hypoautofluorescence observed by fundus autofluorescence was inverted compared with that observed by fundus fluorescence angiography. A large amount of fibroglial proliferation and disorganization of the retina involving the whole layer, which are also found in peripapillary CHRRPE, were found in the lesions.ConclusionsURPED appears to share some clinical features with CHRRPE, and the relationship between URPED and CHRRPE needs further study.

Presumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium

To correlate structural changes of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) with patient age. Retrospective study. Fifty eyes of 49 patients (age range, 1-74 years) with CHRRPE studied at 9 tertiary vitreoretinal institutions. We analyzed the clinical findings with respect to lesion topography and pigmentation as well as investigated the OCT findings regarding the thickness, vitreoretinal interface, outer plexiform layer distortion, ellipsoid zone disruption, and retinal pigment epithelium-Bruch's membrane complex involvement of CHRRPE. Clinical and imaging findings of CHRRPE at different ages. Analysis of 50 CHRRPE patients revealed that younger patients were more likely to demonstrate partial thickness involvement of the retina (P= 0.009) with predominantly inner retinal layer involvement (P=0.04). The inverse was true for older patients with CHRRPE. In addition, older patients more commonly showed pigmentary changes. Eyes with CHRRPE were more likely to show an increase in central macular thickness independently of tumor location. Based on these findings, we believe that CHRRPE typically begins in the inner retina and continues toward the outer retina over time, with increase in central macular thickness, despite the location of the tumor.

Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE) in a Baby

Combined hamartoma of the retina and retinal pigment epithelium (RPE) is a rare, congenital, and benign tumour that may be mistaken with a choroid melanoma or retinoblastoma. These tumours often show an epiretinal membrane, tangential traction, disorganization of the retinal layers, and underlying uniform choroidal thinning. Our case report aims to describe the clinic and its correlation with MRI imaging on the evolution of a combined hamartoma of the retina and retinal pigment epithelium in a 5-month-old baby with six years of follow up.

Surgical Outcomes of Epiretinal Membrane Removal Due to Combined Hamartoma of the Retina and RPE.

To evaluate the surgical outcomes of epiretinal membrane (ERM) associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) after vitrectomy and membrane peel. A retrospective review of 15 patients who underwent pars plana vitrectomy with membrane peeling. No plasmin enzyme was used. The mean age at surgery was 10 years old, with an average follow-up of 5.7 years. The average preoperative visual acuity (VA) was 20/514. The average postoperative VA was 20/138 (P = .0251) at 1-year follow-up and 20/89 (P = .0025) on the latest exam on final follow-up. VA was improved in 14 patients (93%) and deteriorated in one patient (7%). All 15 patients (100%) had improvement of retinal/macular anatomy postoperatively. In the treatment of patients with ERM due to CHRRPE, vitrectomy with membrane peeling without plasmin injection can result in improved VA and retinal structure. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:546-554.].

Combined hamartoma of the retina and retinal pigment epithelium in a 6-year-old girl — a case report

Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) is a rare, benign, usually onesided disease that can cause significant painless vision loss. Combined hamartoma of the retina and retinal pigment epithelium is most commonly found in isolated forms, but reports are also available describing compounds with neurofibromatosis types 1 and 2. CHRRPE has increased retinal pigmentation, tortuous vessels, and the presence of epiretinal membranes. In our article, we present a case report of a 6-year-old girl who was diagnosed with CHRRPE.

OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM.

To study multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Six patients (3 males, mean age 11 years) and a healthy age-matched control group made up of 15 healthy subjects (8 males, mean age 12.6 years) were included in the analysis. Complete ophthalmologic examination was performed, including best-corrected visual acuity, anterior and posterior segment slit-lamp evaluation, and tonometry. The multimodal imaging protocol included fundus images, structural optical coherence tomography (OCT), and swept-source OCT angiography (OCTA). The main outcome measures included the qualitative evaluation of both OCT and OCTA features of CHRRPE, retinal and choroidal thickness measurements, and the quantitative analysis of superficial capillary plexus, deep capillary plexus, and choriocapillaris vessel densities. Optical coherence tomography features of CHRRPE were examined extensively. Multiple little hyperreflective triangular outer retinal alterations were found at the CHRRPE edges in all patients; these were dubbed the "shark-teeth" sign. Optical coherence tomography angiography showed rarefaction and morphologic alterations of all retinal plexa. Moreover, quantitative analysis revealed a statistically significant decrease in superficial capillary plexus, deep capillary plexus, and choriocapillaris vessel densities in patients affected by CHRRPE compared with the control group. Optical coherence tomography and OCTA analyses allowed the accurate qualitative and quantitative analyses of CHRRPE features. Further studies are needed to better define OCTA changes of CHRRPE better and to improve our understanding of the possible causes of the shark-teeth sign.

A Case of a Combined Hamartoma of the Retina and RPE Concurrently Found in the Same Eye as Peripheral Astrocytic Hamartomas

We report a case of a 7-year-old boy with neurofibromatosis 2 who was referred to our pediatric retina clinic for deteriorating vision of his left eye. Fundoscopy revealed a gray epiretinal and vitreous opacity extending to the fovea in the left eye. Optical coherence tomography (OCT) demonstrated an epiretinal membrane (ERM) with a distinct tissue plane and overlying vitreoretinal strands, consistent with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Intraoperative OCT-guided pars plana vitrectomy and membrane peel were performed and the tissue was sent for histopathologic evaluation. Intraoperative scleral-depressed examination also revealed multiple elevated, white-gray, semitranslucent masses near the ora serrata, consistent with astrocytic hamartomas. Histopathologic analysis of the epiretinal tissue revealed glial origin. Recognition of any of these lesions in a young patient should prompt neurologic and genetic evaluation.

Combined Hamartoma of the Retina and Retinal Pigment Epithelium: An Optical Coherence Tomography–Based Reappraisal

To analyze the optical coherence tomography (OCT) characteristics of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) involving the macula. Retrospective, observational case series. setting: Single institutional. Fourteen consecutive patients of CHRRPE were included. The authors analyzed the clinical features, color fundus photography, and swept-source or spectral-domain OCT of all the involved eyes. OCT characteristics, especially the involvement of the retinal pigment epithelium (RPE). A total of 16 eyes of 5 female and 9 male patients were analyzed. The mean age (± SD) was 17.9 ± 6.4 (range 10-34) years. Mean best-corrected visual acuity (± SD) in logMAR was 0.9 ± 0.5 (20/160 ± 20/60). The OCT was suggestive of a focal mass-like lesion primarily involving the inner retinal layers limited externally by the outer plexiform layer (OPL) in 15 eyes (93.7%). The OPL appeared to have a saw-tooth appearance ("intraretinal peaks") in 12 eyes (75%). The convolutions of the OPL were broader and deeper in some eyes (5 eyes, 31.2%), giving an "omega sign" (ω) appearance. The ellipsoid zone appeared intact in 13 eyes (81.2%). The RPE band appeared intact in all eyes. Considering the OCT features, available evidence, and embryology, we propose that the true nature of CHRRPE should be reanalyzed. In our series, CHRRPE was noted to be primarily a hamartoma arising from the inner retinal layers. A majority of cases were limited posteriorly by the OPL without any involvement of the outer retinal layers and RPE.

Delayed presentation of a peripapillary combined hamartoma of the retina and retinal pigment epithelium

Combined hamartoma of the retina and retinal pigment epithelium (CHR‐RPE) is a rare, benign, unilateral and generally sporadic condition that typically manifests in childhood with reduced visual ac...

Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane.

Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA.

Hamartoma combinado de retina y del epitelio pigmentario. Abordaje mediante terapia anti-VEGF de membranas neovasculares asociadas

Case reportA 58 year-old female was diagnosed with a juxtapapillary combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE) in her left eye 14 years ago. Her visual acuity in that eye was 20/20. Recently, she came to our department with a sudden visual loss and metamorphopsis in her left eye. After performing funduscopy, angiography and OCT, she was diagnosed with choroidal neovascular membrane (CNVM) at lesion border, and started on antiangiogenic therapy. DiscussionCHR-RPE, despite being a benign condition, may become complicated with severe visual impairment. Antiangiogenic therapy provides a good alternative to photodynamic therapy or laser photocoagulation for treatment of CNVM, avoiding adding iatrogenesis from these treatment to the complications associated with this pathology.

Characteristics of fundus image in combined hamartoma of the retina and retinal pigment epithelium

Objective To investigate the characteristics of fundus image in patients with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).Methods Eight eyes of 8 cases with CHRRPE were included in this study.There were 5 males and 3 females,ranging from 6 to 21 years old (mean 14.13 years).In all cases,unilateral eye was affected.The best-corrected visual acuity (BCVA) was 0.02 to 0.2.The intraocular pressure in all eyes was normal.The ocular anterior segment in all cases was alright.For all cases,fundus photography,fundus autofluorescence (AF),fundus fluorescein angiography (FFA) and spectral-domain optical coherence tomography (SD-OCT) were taken.The characteristics of fundus image were analyzed.Results All the CHRRPE lesions located at posterior pole,presenting as yellow-white elevations,surrounded by hyperpigmentation.Retinal vascular tortuosity and proliferation of epiretinal membrane were found in all CHRRPE lesions.In 8 affected eyes,lesions were involved in macula and optic disc in 3 eyes (37.5％),lesions were located in macula in 5 eyes (62.5％).AF images showed lesion bulges and the surrounding hyperpigmentation corresponding to the local hypo-AF in 7 eyes (87.5％),dense epiretinal membrane corresponding to the local hyper-AF in 1 eye (12.5％).FFA showed local hypofluorescence of choroidal background corresponding to lesions and the surrounding hyperpigmentation,tortuous retinal vascular due to traction of shrinkage membranes.Retinal capillary leakage and the fluorescence brightness gradually increased in all lesions.No retinal hemorrhage,exudation,area of capillary non-perfusion,retinal and choroidal neovascularization could be found in 8 CHRRPE eyes.SD-OCT showed disorganized and elevated lesion with uneven reflectivity in inner retina,mild attenuation of the retinal pigment epithelium (RPE) and photoreceptor inner segment/outer segment junction in all CHRRPE eyes.Of the 8 CHRRPE eyes,cavernous hypo-reflective shadowing due to the shielded optical signal acquisition below dense epiretinal membranes in 2 eyes (25.0％),membrane-like hyper-reflective signals connecting with RPE in 1 eyes (12.5％).Conclusions Decreased AF appear in the location of CHRRPE lesion and the surrounding hyperpigmentation.Hypofluorescence of choroidal background can be found in the early phase of FFA,the fluorescence brightness of CHRRPE lesion gradually increases in FFA process.The retinal elevation,attenuated signal reflection of the RPE and photoreceptor inner segment/ outer segment junction in CHRRPE lesion can be verified by OCT. Key words: Retinal diseases; Hamartoma/diagnosis; Fluorescein angiography; Tomography, optical coherence

Vitrectomy, Laser Photocoagulation, and Intravitreal Triamcinolone for Combined Hamartoma of the Retina and Retinal Pigment Epithelium.

Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) is a rare, benign tumor, but there are no established managements for CHRRPE. A patient with CHRRPE who is treated successfully by the new combination therapy was described. A 32-year-old man was diagnosed as having CHRRPE after evaluation with ophthalmoscopy, fluorescein angiography (FA), and optical coherence tomography (OCT). First performed intravitreal triamcinolone acetonide (IVTA) (4 mg/0.1 mL) and laser photocoagulation to treat the vascular component. There was a rapid and good response after that therapy, but a recurrence 3 months later. To relieve the glial component, we simultaneously combined vitrectomy with IVTA and laser photocoagulation. After the combination therapy, there were no recurrences or complications. A combination therapy of vitrectomy, laser photocoagulation, and intravitreal triamcinolone could be considered as a possible management for CHRRPE with the vascular and glial components.

Pars Plana Vitrectomy and Epiretinal Membrane Peeling for Vitreoretinal Traction Associated with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE)

Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) are rare, benign tumours that typically appear slightly elevated and are characterised by varying amounts of pigmentation, vascular tortuosity, and epiretinal membrane formation that can be related to macular distortion. The importance of changes at the vitreoretinal interface in this condition as a risk for visual loss was early recognised but controversy exists concerning the benefits of surgical removal of the tractional component. We describe 2 cases of CHRRPE who demonstrated significant visual acuity improvement after pars plana vitrectomy and epiretinal membrane peeling. A 12-year-old girl and a 14-year-old boy presented with progressive unilateral visual loss related with a CHRRPE. In both instances the hamartoma was associated with a thickened posterior hyaloid and epiretinal membrane inducing considerable vitreomacular traction as shown by optical coherence tomography (OCT). Best-corrected pre-operative visual acuity was 0.2 in both cases. Vitrectomy and epiretinal membrane peeling were performed in both cases. Relief of vitreomacular traction and macular distortion was achieved and documented on OCT. Visual acuity at the latest follow up was 0.5 and 0.8, respectively. Surgical dissection can be effective in the treatment of vitreomacular traction associated with CHRRPE with a good functional and anatomical outcome.

Combined pigment epithelial and retinal hamartoma: long-term follow-up of three cases

Background: Combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE) is a rare lesion at the level of the RPE.Methods: We report 3 cases of CHR-RPE in otherwise healthy patients and discuss their clinical and instrumental characteristics at diagnosis and during follow-up.Results: The clinical characteristics are usually diagnostic; however, echography, fluorescein angiography, and optical coherence tomography are useful tools for appropriate diagnostic evaluation and accurate follow-up.Interpretation: Standardized echography is important in CHR-RPE's diagnosis because it permits exclusion of malignant lesions, preventing unnecessary enucleation, and is fundamental in follow-up.

Successful treatment of subfoveal choroidal neovascularization associated with combined hamartoma of the retina and retinal pigment epithelium

Purpose To describe a patient with subfoveal choroidal neovascularization (CNV) associated with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE), treated successfully by submacular surgery. Design Interventional case report. Methods A 12-year-old girl was referred to our clinic for evaluation. Visual acuity was 20/30 in the affected left eye. Ophthalmoscopy disclosed juxtapapillary CHRRPE and subfoveal pigmented CNV. Vitreous surgery was carried out because of visual deterioration to 20/60. Results The posterior vitreous was strongly attached to glial tissue at the superior margin of the optic disk in the CHRRPE region. The CNV, which was not connected with the CHRRPE, was carefully removed, resulting in visual improvement to 20/20 5 months after surgery. Histologically, the excised membrane showed fibroblast-rich cellular component and a type 2 configuration. Conclusion Submacular surgery can be effective for the treatment of secondary CNV associated with CHRRPE.