Combined Hamartoma Of Retina Research Articles

CONCENTRIC MACULAR RINGS SIGN IN COMBINED HAMARTOMA OF RETINA AND RETINAL PIGMENT EPITHELIUM.

To describe two cases of concentric macular rings (CMR) sign in patients with combined hamartoma of retina and retinal pigment epithelium (CHRRPE). History and clinical examination, spectral-domain optical coherence tomography (SD-OCT), and optic coherence tomography angiography (OCTA). The first patient was a 26-year-old woman with clinical diagnosis of Neurofibromatosis type 2. The Best-Corrected Visual Acuity (BCVA) was 20/25 in the right eye (OD) and 20/20 in the left eye (OS). She presented a subtle grayish lesion in the macular region of OD. On macular SD-OCT, there was a thickened and disorganized retina, suggestive of CHRRPE. In addition, at the parafoveal region, there was a dentate pattern in the outer plexiform layer (OPL) and Henle fiber layer (HFL) on cross-sectional SD-OCT. OCTA showed no foveal avascular zone (FAZ) in OD and Optos ultra-wide-field revealed CMR sign in this eye. The second patient was a 14-year-old boy, with diabetes mellitus type 1. His BCVA was 20/25 in OD and 20/20 in OS. He had a subtle whitish lesion in the macular region of OD, with SD-OCT findings suggestive of CHRRPE. Similar to the first case, there was a dentate pattern in the OPL and HFL, on SD-OCT. In OD, blue reflectance images exhibited the CMR sign, and OCTA showed absent FAZ. CHRRPE may be related to changes in the OPL and HFL interface and may present the CMR sign.

Псевдоретинобластомы: спектр патологии и частота в различных возрастных группах. Анализ 14-летнего опыта

Purpose. To evaluate the spectrum and the occurrence frequency of lesions simulating retinoblastoma in different age groups. Material and methods. A retrospective study of 608 patients (871 eyes) with suspected retinoblastoma was performed in the Ocular Oncology and Radiology Department of the Fyodorov Eye Microsurgery Federal State Institution in the period from 2007 to 2020. The mean patient age at presentation was 21 months (from 1 to 209 months). In 475 patients (78.1%) (715 eyes), the diagnosis of retinoblastoma was confirmed after a comprehensive assessment of the eye. 133 patients (156 eyes) (21.9%) had symptoms mimicking retinoblastoma-pseudoretinoblastomas. All patients with pseudoretinoblastomas were divided into different groups based on the simulating condition and age: from 0 to 1 year, from 1 to 2 years, from 2 to 5 years, older than 5 years. Results. There were 25 conditions simulating retinoblastoma. The most common conditions were Coats' disease (n=17; 12.8%), combined hamartoma of retina and retinal pigment epithelium (n=12. 9%), retinal detachment (n=11; 8.3%), vitreous opacities caused by intrauterine uveitis (n=11; 8.3%), choroidal hemangioma (n=11; 8.3%), vasoproliferative tumor (n=10; 7.5%), retinopathy of prematurity (n=7; 5.3%), morning glory syndrome (n=7; 5.3%). Most patients had unilateral lesions (n=116; 87.2%). Pseudoretinoblastomas differed based on age at presentation, because children 1 year of age or younger were most likely to have vitreous opacities caused by intrauterine uveitis (n=9; 21.4%) and retinopathy of prematurity (n=7; 16.7%); children aged from 1 to 2 years – Coats' disease (n=4; 20%) and choroidal hemangioma (n=3; 15%), from 2 to 5 years – Coats' disease (n=8; 21.6%), older than 5 years – Coats' disease (n=5; 14.7%) and vasoproliferative tumors (n=7; 20.6%). Conclusion. Timely referral of children with suspected retinoblastoma in specialized ocular oncology centers helps to avoid unnecessary treatment for retinoblastoma, enucleation and improve the vital prognosis.

Optical coherence tomography analysis of surgical outcomes of combined hamartoma of retina and retinal pigment epithelium.

PURPOSE:To evaluate the surgical outcomes in combined hamartoma of retina and retinal pigment epithelium (CHRRPE) using optical coherence tomography (OCT).METHODS:This was a retrospective interventional study, in which medical records of 12 eyes with CHRRPE that underwent vitrectomy and membrane peeling at three tertiary vitreoretinal institutes were reviewed. Preoperative and postoperative color fundus photographs and OCT were reviewed for each follow-up visit.RESULTS:Five out of 12 eyes had a good visual outcome (equal or more than 2 lines gain in visual acuity), four had stable visual outcome (<2 line gain), and three had poor visual outcome (loss of visual acuity). Preretinal fibrosis preoperatively was seen in 80% of cases with good outcomes as compared to 50% and 0% of cases in the cohorts with stable and poor outcomes, respectively. Preoperatively all 5 cases with good visual outcome had Grade 4 epiretinal membrane (ERM), while only 1 case with stable and poor visual outcome had grade 4 ERM and the rest had Grade 3 ERM. Maxi peaks were seen in 80%, 50%, and 0% of cases preoperatively in the three cohorts, respectively. Hyperreflectivity of inner retinal layers preoperatively was evident in all cases having good visual outcomes, in 75% of cases with stable visual outcomes, and in 33% of cases with poor outcomes.CONCLUSION:Surgical intervention in CHRRPE with preretinal fibrosis seems to be beneficial. The visual recovery as defined by conventional predictors in cases of surgical removal of ERM fails to explain the visual outcome in CHRRPE.

Filigree Vascular Pattern in Combined Hamartoma of Retina and Retinal Pigment Epithelium on OCT Angiography

To evaluate the vascular structure within combined hamartoma of retina and retinal pigment epithelium (CHRRPE) lesions using OCT angiography (OCTA). Multicenter, retrospective, observational analysis, PARTICIPANTS: Twenty eyes of patients diagnosed with CHRRPE. Retrospective analysis of color fundus photographs, OCT, and OCTA of 20 eyes with CHRRPE. Morphologic characteristics of CHRRPE and the OCT features were correlated with the density of the filigree vascular pattern and with the published histopathologic findings of CHRRPE lesions. Density of flow signals, that is, the filigree vascular pattern seen on OCTA in the deep capillary plexus, graded as high (>20), intermediate (10-20), or low (<10). Of 20 lesions, 11 were peripapillary, 8 were macular, and 1 was equatorial in location. A high density of filigree vascular pattern was observed in most peripapillary CHRRPE lesions, which also showed full-thickness retinal involvement (8/10). A low density of filigree pattern was seen in macular lesions, which showed partial-thickness retinal involvement and preretinal fibrosis (5/6). A filigree vascular pattern on OCTA is seen in CHRRPE lesions. High density of this pattern is noted in CHRRPE lesions with a peripapillary location, full-thickness retinal disorganization, and minimal preretinal fibrosis. These findings correlate well with published histopathologic findings of CHRRPE lesions both in terms of topographic and morphologic features. OCT angiography provides a promising method for further study of these lesions.

Pseudomelanome der Aderhaut

The aim of this study was to evaluate what are the most frequent ocular diseases that were suspected for choroidal melanoma ("pseudo melanoma"). The data of all patients who were seen in the University Hospital of Mainz under the suspicion of choroidal melanoma between 1.1.1994 and 1.1.2004 and underwent ultrasound examination, fluorescein angiography or fundus photography, were analysed retrospectively. Among 458 examined eyes a choroidal melanoma was diagnosed in 212 cases. In 246 cases the diagnosis was "pseudomelanoma". The most frequent ocular diseases suspected for choroidal melanoma were "suspicious nevi" in 31 % of the cases and "disciforme macula degeneration" in 34 %. Less frequently we found hyperplasty of pigment epithelium (5 %), melanocytoma (10 %), choroidal haemangioma (6 %), choroidal detachment (7 %) and retinal macroaneurysma with epi-/subretinal haemorrhages (3 %). Rare diagnoses were orbital tumour, scleritis posterior and a combined hamartoma of retina and pigment epithelium (4 % at all). In 58 eyes without a fundus view, ultrasound revealed an intraocular tumour. In these cases vitrectomy/cataract extraction was performed and we found a choroidal melanoma in 5 eyes, a disciforme macula degeneration in 48 eyes and in 5 eyes a retinal macroaneurysma. Age-related macula degeneration (AMD) is the cause for one third of all pseudomelanomas. Because of its increasing incidence in the future, more attention must be paid to AMD in the differential diagnosis of chorioretinal lesions suspicious of melanoma.