scholarly journals Congenital Simple Hamartoma of Retinal Pigment Epithelium: Clinical and Imaging Findings

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Mehmet Yasin Teke ◽  
Pinar Ç. Özdal ◽  
Figen Batioglu ◽  
Ufuk Elgin ◽  
Faruk Öztürk
Keyword(s):  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Benign Lesion ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Autofluorescence Imaging ◽  
Imaging Findings ◽  
Characteristic Finding ◽  
Tumor Margins ◽  
Surface Optical

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.

scholarly journals A review of fundus autofluorescence imaging

2013 ◽  
Vol 72 (1) ◽  
Author(s):  
D. J. Booysen
Keyword(s):  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Macular Pigment ◽  
Diagnostic Information ◽  
Autofluorescence Imaging ◽  
Outer Retina ◽  
Clinical Tool ◽  
Non Invasive

Autofluorscence photography of the retina provides important diagnostic information about diseases that affect the outer retina; more specifically the retinal pigment epithelium and photoreceptors. Fundus autofluorescence can alsobe used to evaluate macular pigment density and other diseases of the retina and choroid. It is a non-invasive clinical tool which has the potential to revolutionise clinical retina practice. (S Afr Optom 2013 72(1) 46-53) 

scholarly journals Early Detection of Incipient Retinal Pigment Epithelium Atrophy Overlying Drusen with Fundus Autofluorescence vs. Spectral Domain Optical Coherence Tomography

2020 ◽  
Vol 2020 ◽  
pp. 1-8 ◽  
Author(s):  
Anabel Rodríguez ◽  
Marc Biarnés ◽  
Rosa M. Coco-Martin ◽  
Anna Sala-Puigdollers ◽  
Jordi Monés
Keyword(s):  
Optical Coherence Tomography ◽  
Retinal Pigment Epithelium ◽  
Median Time ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Geographic Atrophy ◽  
Optical Coherence ◽  
Rpe Atrophy ◽  
Sd Oct

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.

scholarly journals Spectral analysis of fundus autofluorescence pattern as a tool to detect early stages of degeneration in the retina and retinal pigment epithelium

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 ◽  
...  
Keyword(s):  
Spectral Analysis ◽  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Early Stages

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

2019 ◽  
Vol 104 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Marina Riera ◽  
Víctor Abad-Morales ◽  
Rafael Navarro ◽  
Sheila Ruiz-Nogales ◽  
Pilar Méndez-Vendrell ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Autofluorescence Imaging ◽  
New Genotype

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms.ResultsA homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree.ConclusionThis study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.

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 ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Clinical Features ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Chinese Patients ◽  
Fluorescence Angiography ◽  
Case Presentation ◽  
The Relationship

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.

scholarly journals Hyperautofluorescence in Outer Retinal Layers Thinning

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Marina Bertolotto ◽  
Luigi Borgia ◽  
Michele Iester
Keyword(s):  
Retinal Thickness ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Age Related Macular Degeneration ◽  
Retinal Layer ◽  
Autofluorescence Imaging ◽  
Cross Sectional ◽  
Age Related ◽  
Window Effect

Purpose. To evaluate if paracentral hyperautofluorescence (HAF) retinal regions, which can be occasionally found and analyzed by optical coherence tomography (OCT), were related to retinal layer changes and to detect which layer was involved.Methods. This is a cross-sectional and retrospective study. 648 OCT files were revised. OCTs that showed a paracentral HAF area by using the fundus autofluorescence imaging in Heidelberg Spectralis (Heidelberg Engineering, Germany) were selected. Then retinal layer morphology was analyzed observing OCT scans and a retinal thickness was measured.Results. 31 patients were selected: 20 patients had chronic serous epitheliopathy (CSE), 8 patients had resolved central serous chorioretinopathy (CSC), and 3 patients wet age related macular degeneration (ARMD). The HAF zones corresponded to areas of thickness reduction of the external hyporeflective band. In all these areas the retinal pigment epithelium was not atrophic and the neuroepithelium was more or less dystrophic. In particular the retinal thickness was 264 um, 232 um, and 243 um in wet ARMD, CSE, and CSC, respectively; the reduction was significant (P<0.01) compared to the same area of the other eye.Discussion. The presence of HAF imaging might be mostly due to a “window effect” rather than an accumulation of lipofuscin.

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