Publications by authors named "Ferenc B Sallo"
Article Synopsis
- - The study investigates the retinal phenotype in two siblings with new genetic variants linked to hereditary spastic paraplegia type 56 (HSP 56), which resemble type 2 macular telangiectasis (MacTel).
- - Five family members underwent extensive ophthalmic evaluations and genetic testing, revealing that the affected siblings exhibited specific retinal anomalies, including loss of retinal transparency and abnormal pigment distribution.
- - The findings suggest a potential connection between the observed retinal issues and the genetic variants, indicating a shared pathway in the development of both MacTel and the hereditary condition.
Importance: Deep learning image analysis often depends on large, labeled datasets, which are difficult to obtain for rare diseases.
Objective: To develop a self-supervised approach for automated classification of macular telangiectasia type 2 (MacTel) on optical coherence tomography (OCT) with limited labeled data.
Design, Setting, And Participants: This was a retrospective comparative study.
Purpose: To develop a severity classification for macular telangiectasia type 2 (MacTel) disease using multimodal imaging.
Design: An algorithm was used on data from a prospective natural history study of MacTel for classification development.
Subjects: A total of 1733 participants enrolled in an international natural history study of MacTel.
To report the early efficacy and safety outcomes of treatment with intravitreal injections of brolucizumab (IVT-B) in patients presenting neovascular age-related macular degeneration (nAMD) in a tertiary clinical setting. A retrospective case series of patients that received IVT-B with a minimum of two injections performed and at least 4 weeks of follow-up after last injection. Nineteen eyes of 19 patients were included.
View Article and Find Full Text PDFBackground: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production; however, an independent vascular contribution is also suspected.
View Article and Find Full Text PDFPurpose: To investigate the progression characteristics of ellipsoid zone (EZ) loss in eyes with macular telangiectasia type 2 (MacTel) as reflected by area and linear measurements, and their relevance for visual acuity.
Methods: Participants were selected from the MacTel Study cohort. Linear and area measurements of EZ loss were performed in Spectral-Domain Optical Coherence Tomograph (SD-OCT) volume scans.
Purpose: Pigment in the midretina is a characteristic sign in Type 2 idiopathic macular telangiectasia (MacTel) and is considered to characterize the late stage of the disease. Our aim was to investigate its incidence, and relationship with risk factors for MacTel, including outer retinal vascularization and subretinal neovascular proliferation (SRNV).
Methods: Pigment extent was measured in fundus autofluorescence images of 150 eyes of 75 MacTel probands, using the Region Finder tool of Heidelberg Eye Explorer.
Purpose: To investigate the influence of hormone therapy with tamoxifen or estrogens on morphological changes in macular telangiectasia (MacTel) type 2 patients as revealed clinically in multiple imaging modalities.
Methods: Patients with a history of tamoxifen or estrogen use were selected from the cohort of the MacTel Study. A race-, age- and best-corrected visual acuity-matched group of MacTel participants not under hormone therapy served as the comparison group.
Purpose: To investigate the electrophysiological features of macular telangiectasia Type 2 and their relationship to structure as determined by optical coherence tomography imaging.
Methods: Forty-two eyes from 21 patients enrolled in the Macular Telangiectasia Natural History Observation Study were reviewed. All patients had full-field and pattern electroretinography (ERG; PERG) with some patients additionally having multifocal electroretinography (mfERG; N = 15) or electrooculography (N = 12).
Purpose: Macular telangiectasia Type 2 (MacTel) is a bilateral, progressive, potentially blinding retinal disease characterized by vascular and neurodegenerative signs, including an increased parafoveal reflectivity to blue light. Our aim was to investigate the relationship of this sign with other signs of macular telangiectasia Type 2 in multiple imaging modalities.
Methods: Participants were selected from the MacTel Type 2 study, based on a confirmed diagnosis and the availability of images.
Purpose: Macular telangiectasia Type 2 is a bilateral, progressive, potentially blinding retinal disease characterized by both vascular and neurodegenerative signs. Both the area of the break in the ellipsoid zone seen in "en face" optical coherence tomographic (OCT) images and microperimetric focal retinal sensitivity loss have been proposed as potential measures of progression in macular telangiectasia. The authors aimed to assess the characteristics and interrelationship of these structural and functional disease markers from the data collected in a phase one clinical trial of ciliary neurotrophic factor in macular telangiectasia.
View Article and Find Full Text PDFPurpose: To evaluate progression of macular telangiectasia Type 2 lesions and their correlation with visual acuity.
Methods: An international multicenter prospective study with annual examinations including best-corrected visual acuity (BCVA), fundus photography, fluorescein angiography, and optical coherence tomography images graded centrally. Mixed models were used to estimate progression rates, and a generalized linear model to compute the relative risk of BCVA loss, loss of ellipsoid zone (EZ) reflectivity, development of pigment plaques, or neovascularization.
Purpose: Macular telangiectasia is associated with neurodegenerative changes including focal outer retinal atrophy and a loss of macular pigment (MP). We aimed to investigate whether an association between spectral domain optical coherence tomography neurodegenerative signs and MP abnormalities can be detected.
Methods: Forty-seven eyes of 27 macular telangiectasia Type 2 patients (mean age 66.
Purpose: To determine normative values for defining glaucoma in cross-sectional surveys in Nigerian adults.
Methods: Multistage stratified cluster random sampling with probability-proportional-to-size procedures to select a nationally representative sample of 15,027 persons aged ≥ 40 years in 305 clusters across Nigeria. Systematic sampling of 1 in 7 participants gave 1759 who were examined in detail to construct a normative database.
Purpose: To evaluate the safety and tolerability of intraocular delivery of ciliary neurotrophic factor (CNTF) using an encapsulated cell implant for the treatment of macular telangiectasia type 2.
Design: An open-label safety trial conducted in 2 centers enrolling 7 participants with macular telangiectasia type 2.
Methods: The participant's more severely affected eye (worse baseline visual acuity) received the high-dose implant of CNTF.
Background: Macular telangiectasia Type 2 is a bilateral, progressive potentially blinding retinal disease characterized by both vascular and neurodegenerative signs that have been documented using different imaging techniques. The correlation between macular telangiectasia Type 2 signs from various imaging modalities is unknown. Our aim was to investigate the relationship of various macular telangiectasia Type 2 signs using fundus fluorescein angiography, optical coherence tomography and dual-wavelength autofluorescence images.
View Article and Find Full Text PDFPurpose: The aim of this study was to determine whether typical abnormalities seen on autofluorescence (AF) imaging in patients with macular telangiectasia (MacTel) type 2 are correlated with visual acuity at presentation and with progression of visual loss over a 2-year follow-up period.
Methods: A subgroup of 218 patients (413 eyes) enrolled in the MacTel study that underwent AF imaging was included in the present study. Images were graded at the Moorfields Eye Hospital Reading Center.
Aims: To quantitatively analyse cone photoreceptor matrices on images captured on an adaptive optics (AO) camera and assess their correlation to well-established parameters in the retinal histology literature.
Methods: High resolution retinal images were acquired from 10 healthy subjects, aged 20-35 years old, using an AO camera (rtx1, Imagine Eyes, France). Left eye images were captured at 5° of retinal eccentricity, temporal to the fovea for consistency.
The IS/OS junction layer in the natural history of type 2 idiopathic macular telangiectasia.
Invest Ophthalmol Vis Sci
November 2012
Purpose: To document the progression of a break in the photoreceptor inner segment/outer segment (IS/OS) junction layer and its functional correlates over time in the natural history of type 2 idiopathic macular telangiectasia (type 2 MacTel).
Methods: Patients with at least 1 year of follow-up were selected from the MacTel Study. En face images were created by manual segmentation of the IS/OS junctional line in volume scans acquired using a spatial-domain optical coherence tomography retinal imaging unit.
"En face" OCT imaging of the IS/OS junction line in type 2 idiopathic macular telangiectasia.
Invest Ophthalmol Vis Sci
September 2012
Purpose: We investigated abnormalities of the photoreceptor inner/outer segment (IS/OS) junction layer viewed "en face" and their functional correlates in type 2 idiopathic macular telangiectasia (type 2 MacTel).
Methods: Segmentation and "en face" imaging of the IS/OS lines in spectral domain optical coherence tomographic (SD-OCT) volumes were performed manually. Mesopic retinal sensitivity thresholds were determined using a Nidek MP1 microperimeter.
Purpose: Type 2 idiopathic macular telangiectasia (MacTel) is a progressive retinal disease associated with a slow deterioration of visual acuity, starting in the fifth to seventh decades of life. The etiology and pathogenesis of the disease are little known, and no effective therapy is available. We aimed to estimate the prevalence and describe the phenotype of type 2 MacTel in two African populations.
View Article and Find Full Text PDFPurpose: To characterize the phenotype and investigate the associations of intraretinal crystalline deposits in a large cohort with type 2 idiopathic macular telangiectasia (MacTel).
Design: Case-control study.
Participants: Patients with and without retinal crystals from the Macular Telangiectasia Project, an international multicenter prospective study of type 2 MacTel.