Optical Coherent Tomography Features of Malattia Leventinese

Souied, Eric H.; Leveziel, Nicolas; Letien, V.; Darmon, Jacques; Coscas, G; Soubrane, G.

doi:10.1016/j.ajo.2005.09.001

Cited by 29 publications

(12 citation statements)

References 5 publications

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“…Type 2 lesions appeared as small, linear, hyper-reflective deposits at the level of the ONL and well differentiated visibly from the RPE layer (figs 2-4). This location is unusual in the field of inherited macular dystrophies distinct from lesions observed in AFVD, 18 Best macular dystrophy, 19 or malattia leventinese, 20 localised at the level of RPE We believe that this unusual location could contribute to the positive diagnosis in some cases of retinal flecks in STGD/FFM. Several lines of evidence suggest that the two types of retinal flecks merely reflect different stages of the same disorder.…”

Section: Discussionmentioning

confidence: 68%

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Querques

Leveziel²,

Benhamou³

et al. 2006

British Journal of Ophthalmology

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Background/aim: Retinal flecks are commonly observed in both Stargardt disease and fundus flavimaculatus (FFM). The aim was to determine the precise localisation of these flecks within the retinal layers using Stratus optical coherence tomography (OCT). Methods: A prospective observational case series. A complete ophthalmological examination, including autofluorescence, fluorescein angiography (FA), and Stratus OCT (Carl Zeiss) was performed in 49 eyes of 26 consecutive patients with FFM. Six to 12 Stratus OCT linear scans focused on the retinal flecks were performed in each eye. Results: The age at presentation ranged from 23 years to 71 years and visual acuity ranged from 20/20 to 20/400. Hyper-reflective deposits classified into two types were observed on Stratus OCT: type 1 lesions (94% of eyes) presented as dome-shaped deposits located in the inner part of the retinal pigment epithelium (RPE) layer and type 2 lesions (86% of eyes) presented as small linear deposits located at the level of the outer nuclear layer and clearly separated from the RPE layer. Conclusions: Stratus OCT is a non-invasive instrument that provides new information on the location of flecks in FFM. The location of type 2 lesions is quite unusual among macular dystrophies; OCT may therefore be useful in the diagnosis of retinal flecks in some cases of FFM.

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Section: Discussionmentioning

confidence: 68%

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Querques

Leveziel²,

Benhamou³

et al. 2006

British Journal of Ophthalmology

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“…The patient had no family history of retinal diseases to suggest an inherited disorder, and lacked the characteristic radial pattern of malattia leventinese [ 7 ]. Although she was born premature, her normal vasculature and unilateral nature were inconsistent with retinopathy of prematurity [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

Ultra-High Resolution Optical Coherence Tomography Imaging of Unilateral Drusen in a 31 Year Old Woman

Adhi

Lü

et al. 2015

Clin Med Rev Case Rep

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We report a case of widespread unilateral drusen in a healthy 31 year old Caucasian woman using multi-modal imaging including ultra-high resolution optical coherence tomography (UHR-OCT). Dilated fundus exam showed multiple drusen-like lesions in the posterior pole without heme or fluid. Fundus auto fluorescence demonstrated hyperautofluorescent at the deposits. Fluorescein angiography revealed mild hyperfluorescence and staining of the lesions. Spectral-domain optical coherence tomography (SD-OCT) OS showed accumulations in the temporal macula at Bruch's membrane. UHR-OCT provided improved axial resolution compared to the standard 5 μm on the commercial SD-OCT and confirmed the presence of deposits in Bruch's membrane, consistent with drusen. The retinal layers were draped over the excrescences but did not show any disruption.

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“…In contrast to drusen in AMD, the drusen-like deposits in ADD are hyperautofluorescent on FAF (figure 5C,D). 95 96 On OCT, drusen-like deposits are seen as a hyper-reflective thickening of the RPE-Bruch membrane complex, 97 with disrupted photoreceptor integrity (figure 5F). 98 OCTA can be valuable to diagnose CNV in ADD.…”

Section: Retinal Imagingmentioning

confidence: 98%

Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options

et al. 2019

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Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype–phenotype and structure–function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs.

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Optical Coherent Tomography Features of Malattia Leventinese

Cited by 29 publications

References 5 publications

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Ultra-High Resolution Optical Coherence Tomography Imaging of Unilateral Drusen in a 31 Year Old Woman

Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options

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