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

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Zhe Zhu ◽  
Jun Xiao ◽  
Lifu Luo ◽  
Bo Yang ◽  
He Zou ◽  
...  

Abstract Background Herein, 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 presentation The 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. Conclusions URPED appears to share some clinical features with CHRRPE, and the relationship between URPED and CHRRPE needs further study.

2020 ◽  
Vol 2020 ◽  
pp. 1-8 ◽  
Author(s):  
Anabel Rodríguez ◽  
Marc Biarnés ◽  
Rosa M. Coco-Martin ◽  
Anna Sala-Puigdollers ◽  
Jordi Monés

Purpose. This study aims to find out which tool, fundus autofluorescence (FAF) or spectral domain optical coherence tomography (SD-OCT), is more sensitive in detecting retinal pigment epithelium (RPE) demise overlying drusen and can, therefore, help predict geographic atrophy (GA) appearance in Age-Related Macular Degeneration (AMD). Methods. A single-site, retrospective, observational, longitudinal study was conducted. Patients with intermediate AMD (iAMD) (large (>125 μm) or intermediate (63–125 μm) drusen with hyper/hypopigmentation) with a minimum follow-up of 18 months were included. Drusen with overlying incipient RPE atrophy were identified on SD-OCT defined as choroidal hypertransmission or nascent geographic atrophy (nGA). These selected drusen were, then, traced backwards in time to determine if incipient RPE atrophy overlying drusen was observed on FAF (well-demarcated region of absence of autofluorescence) before, simultaneously, or after having detected the first signs of incipient RPE atrophy on SD-OCT. The number of drusen in which signs of incipient RPE atrophy was detected earlier using FAF or SD-OCT was compared. The time elapsed from the identification with the more sensitive method to the other was recorded and analyzed. Results. One hundred and thirty-three drusen in 22 eyes of 22 patients were included. Of these, 112 (84.2%) drusen showed choroidal hypertransmission and 21(15.8%) nGA. Early signs of atrophy overlying drusen were found simultaneously on SD-OCT and FAF in 52 cases (39.1%, 95% CI 30.8–47.9%), earliest on FAF in 51 (38.3%, 95% CI 30.0–47.2%) and first on SD-OCT in 30 (22.6%, 95% CI 15.8–30.6%; p<0.05). Statistically significant differences were found between both techniques (p=0.005), with FAF detecting it earlier than SD-OCT. When RPE atrophy was found first on FAF, the median time to diagnosis with SD-OCT was 6.6 months (95% CI 5.5 to 8.6), while if detection occurred earlier on SD-OCT, the median time until identification with FAF was 12.6 months (95% CI 6.0 to 23.4; p=0.0003). Conclusions. In iAMD cases in which early atrophy overlying drusen is not detected simultaneously in FAF and SD-OCT, FAF was significantly more sensitive. Nevertheless, a multimodal approach is recommended and required to evaluate these patients.


2016 ◽  
Vol 2016 ◽  
pp. 1-12 ◽  
Author(s):  
Yao Wang ◽  
Zhi-Qing Chen ◽  
Wei Wang ◽  
Xiao-Yun Fang

Purpose. To investigate the prevalence and characteristics of focal choroidal excavation (FCE) concurrent with central serous chorioretinopathy (CSC) using multimodal imaging.Methods. This was a retrospective single-institution study. Clinical features and multimodal imaging findings were analyzed in eyes with CSC and FCEs, using imaging methods including optical coherence tomography (OCT), OCT angiography (OCTA), fluorescein angiography (FA), indocyanine green angiography (ICGA), fundus autofluorescence (FAF), and multispectral imaging.Results. Seventeen patients (4.8%) with 21 FCEs (19 eyes) were found among 351 consecutive Chinese patients with CSC. Chronic CSC represented 47.1% of those cases. Window defects in 12 lesions identified through FA and hypoautofluorescence in 13 lesions identified through FAF revealed retinal pigment epithelial attenuation. Choroidal hemodynamic disturbances characterized by localized filling defects at the excavation and circumferential hyperperfusion were validated by both ICGA and OCTA, which were similar to the angiographic features of normal chronic CSC. The hyperreflective tissue beneath FCE, observed on B-scan OCT, presented as intensive choroidal flow signals on OCTA.Conclusions. FCE is not uncommon in patients with CSC. Multimodal imaging suggested that the aberrant choroidal circulation might be a contribution factor for leakage from the dysfunctional retinal pigment epithelium at the area of excavation.


2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in ‘torpedo-shape’ and located at the temporal macula region. The purpose of this article is to describe in detailed regarding the torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman occasionally had an yellowish-white macular lesion in her right eye during a routine examination. She had no symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hyperpigmentation lesion in the temporal macular area of her right eye. Infrared fundal (IR) photograph showed that the lesion contour was visible, transverse elliptical, a tip pointed towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner, mildly thinned retinal pigment epithelium (RPE), and increased choroidal signal. OCT angiography (OCTA) choroid capillary segment revealed increased density of the choroidal vasculature. With fundus autofluorescence (FAF), the lesion showed slight hypoautofluorescence, and marginal mild hypoautofluorescence. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report to put forward a thorough and detailed description of torpedo maculopathy simultaneously using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.


Eye ◽  
2018 ◽  
Vol 32 (9) ◽  
pp. 1440-1448 ◽  
Author(s):  
Tatiana B. Feldman ◽  
Marina A. Yakovleva ◽  
Andrey V. Larichev ◽  
Patimat M. Arbukhanova ◽  
Alexandra Sh. Radchenko ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Mehmet Yasin Teke ◽  
Pinar Ç. Özdal ◽  
Figen Batioglu ◽  
Ufuk Elgin ◽  
Faruk Öztürk

Congenital simple hamartoma of retinal pigment epithelium (CSHRPE) is a rare, asymptomatic, and incidentally detected benign lesion. However, it is very important to do the differential diagnosis from other pigmented retinal lesions. Its clinical presentation and imaging findings are very helpful in doing this differentiation. This paper presents clinical and imaging findings of a 56-year-old woman with incidentally detected CSHRPE. The lesion was small, heavily pigmented, well circumscribed, and slightly elevated. Optical coherence tomography (OCT) scanning was diagnostic and showed an elevated retina at the site of the lesion, increased optical reflectivity on its inner surface, optical shadowing of deeper structures, and clearly cut tumor margins. Ocular ultrasonography, fluorescein angiography, and fundus autofluorescence imaging which is firstly described in this report did not show any characteristic finding.


Author(s):  
Alastair K.O. Denniston ◽  
Philip I. Murray

‘Intraocular tumours’ provides the reader with a practical approach to the assessment and management of these diseases. This chapter includes iris tumours, ciliary body tumours, choroidal tumours (including melanoma and haemangioma), retinoblastoma, retinal pigment epithelium tumours and lymphoma. Using a patient-centred approach the key clinical features, investigations and treatment (medical and surgical) are described for each condition.


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