scholarly journals Improvements in visual acuity and macular morphology following cessation of anti-estrogen drugs in a patient with anti-estrogen maculopathy resembling macular telangiectasia type 2: a pathogenic hypothesis

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Akihiro Shinkai ◽  
Wataru Saito ◽  
Yuki Hashimoto ◽  
Susumu Ishida
Keyword(s):  
Visual Acuity ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Macular Telangiectasia ◽  
History Of ◽  
Macular Telangiectasia Type 2 ◽  
The Relationship

Abstract Background The relationship between anti-estrogen drugs and macular telangiectasia type 2 (MacTel-2) remains unknown. Here we report a case with anti-estrogen maculopathy resembling MacTel-2 with improved visual function and macular morphology following cessation of anti-estrogen drugs. Case presentation A 53-year-old woman presented with a 5-month history of central vision loss and anorthopia in both eyes. She had received oral tamoxifen followed by toremifene for 69 months. Funduscopy, fluorescein angiography, and optical coherence tomography (OCT) revealed MacTel-2-like findings OU. Fundus autofluorescence (FAF) showed hyper-autofluorescence at the fovea OU. Visual acuity, macular morphology on OCT, and FAF findings gradually improved after cessation of anti-estrogen drugs. Conclusions In the present case, visual acuity, macular morphology, and impairment of the retinal pigment epithelium (RPE) improved following cessation of anti-estrogen drugs, suggesting the relationship between retinal toxicity of anti-estrogen drugs and the development of MacTel-2-like findings. From these results and the previous observations, toxicity of both photoreceptor and RPE cells caused by anti-estrogen drugs may contribute to the development of anti-estrogen maculopathy similar to MacTel-2.

Morphological characteristics preceding exudative neovascularisation secondary to macular telangiectasia type 2

2021 ◽  
pp. bjophthalmol-2020-318470
Author(s):  
Kristina Hess ◽  
Peter Charbel Issa ◽  
Frank G Holz ◽  
Simone Tzaridis
Keyword(s):  
De Novo ◽  
Morphological Changes ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Morphological Characteristics ◽  
Macular Pigment ◽  
Fundus Photography ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

AimsTo identify morphological characteristics preceding the development of exudative neovascularisation secondary to Macular Telangiectasia type 2 (MacTel) using multimodal retinal imaging.MethodsIn this retrospective study, eyes with a minimum observation period of 6 months prior to the de novo diagnosis of an exudative neovascularisation secondary to MacTel were analysed. Morphological changes preceding the formation of neovascularisation were evaluated using colour fundus photography, infrared imaging, fluorescein angiography, macular pigment measurement and optical coherence tomography (OCT). OCT-angiography (OCT-A) images were additionally available in a subset of patients.ResultsTwenty eyes from 20 patients were examined over a median period of 17 months (range: 6–100 months). Eyes were characterised by an accelerated progression of ellipsoid zone loss (median of 0.013 mm2/month), increased thickness of the temporal parafovea and hyper-reflective lesions on OCT. The latter underwent morphological changes preceding the development of exudative neovascularisation, including an increase in size and density, and expansion to outer retinal layers and the retinal pigment epithelium. All eyes showed a foveal depletion of macular pigment. On OCT-A, a focal increase in blood flow was observed at the level of the outer retina/choriocapillaris, and retinal–retinal and retinal–choroidal anastomoses preceded the formation of exudative neovascularisation.ConclusionsMultimodal imaging allows the identification of prognostic morphological features preceding the formation of exudative neovascularisation in MacTel. Eyes exhibiting these characteristics should be monitored closely and patients should be alert for emergent symptoms in order to detect and treat neovascularisation early and, thereby, prevent irreversible visual loss.

Incidence and phenotypical variation of outer retina-associated hyperreflectivity in macular telangiectasia type 2

2021 ◽  
pp. bjophthalmol-2020-317997
Author(s):  
Stefanie Mueller ◽  
Frederic Gunnemann ◽  
Kai Rothaus ◽  
Marius Book ◽  
Henrik Faatz ◽  
...  
Keyword(s):  
Disease Severity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Outer Retina ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
Disease Severity Scale ◽  
Variable Presentation ◽  
Sd Oct

BackgroundMacular telangiectasia type 2 (MacTel) is a neurodegenerative disease resulting in photoreceptor loss. Optical coherence tomography (OCT) reveals outer retina-associated hyperreflectivity (ORaH) as part of this process. The purpose of this study was to describe the incidence and phenotypical variation of ORaH.MethodsDifferent parameters of ORaH were analysed: OCT characteristics (Spectralis SD-OCT), correlation with vascular changes (OCT angiography; OCTA 3×3 mm Optovue) and correlation with hyperpigmentation (autofluorescence/fundus images). ORaH was also evaluated regarding the grade of severity of photoreceptor loss (Disease Severity Scale).ResultsOf 220 eyes with MacTel type 2, 106 demonstrated ORaH. On OCT, the size, the extension into the inner retina and the contact with retinal pigment epithelium (RPE) of the ORaH were variable. On OCTA neovascularisation (NV) in the outer retina (OR) was present at the location of the ORaH in 97.6%. Increasing size of NV correlated with progressive photoreceptor loss. In 86.6% with NV, the flow signals were visible between the OR and the choriocapillaris. In 85.7%, the ORaH was associated with hyperpigmentation on autofluorescence and fundus colour images.ConclusionsThe presence of ORaH is associated with increasing photoreceptor loss and disease severity. In these more advanced cases of the present study, a variable presentation of ORaH in respect to size and form was seen, but in most cases, ORaH was in contact to the RPE. Additionally, ORaH was associated with hyperpigmentation and OR NV on OCTA. These results are consistent with the concept of ORaH representing fibrovascular OR-NV with RPE proliferation after contact with the RPE.

scholarly journals Contrast sensitivity and visual acuity under low light conditions in macular telangiectasia type 2

2018 ◽  
Vol 103 (3) ◽  
pp. 398-403 ◽  
Author(s):  
Simone Müller ◽  
Tjebo F C Heeren ◽  
Roberto Bonelli ◽  
Marcus Fruttiger ◽  
Peter Charbel Issa ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Contrast Sensitivity ◽  
Neutral Density Filter ◽  
Light Conditions ◽  
Low Light ◽  
Cross Sectional ◽  
Macular Telangiectasia ◽  
Low Luminance ◽  
Macular Telangiectasia Type 2

Background/AimMacular pigment optical density (MPOD) is centrally depleted early on in macular telangiectasia type 2 (MacTel). Contrast sensitivity (CS) might be related to MPOD, and thus impaired in early MacTel. The effect of low luminance was assessed on both CS and best corrected visual acuity (BCVA).MethodsThis is a cross-sectional study. Pelli-Robson charts were used for CS testing at 1 m in photopic (110 lux) and mesopic (1 lux) conditions. BCVA was tested with ETDRS charts and low luminance visual acuity (LLVA) with a 2.0 log unit neutral density filter. MPOD was obtained with dual-wavelength autofluorescence.ResultsOne hundred and three eyes of 52 patients with MacTel (mean±SD age 62.9±10.2, range 35–77) were compared with 34 healthy eyes of 17 controls (mean±SD age 65.2±7.4, range 53–78). CS was significantly lower in the eyes with MacTel. This impairment was higher in low light conditions (low light contrast sensitivity (LL-CS)). Eyes at the early stages of MacTel had significantly lower LL-CS than controls, but normal (photopic) CS. The results were similar but less pronounced for BCVA/LLVA. Decrease in CS was correlated with loss of MPOD.ConclusionsLow light conditions have a detrimental effect on visual performance in MacTel. Impaired CS might correlate with MPOD depletion as a pathognomonic finding in MacTel. Functional impairment might precede structural disintegration, indicating dysfunction at the cellular level. The applied tests might be useful as additional functional assessments in clinical routine and as outcome measures in future interventional clinical trials.

scholarly journals Diagnosis and Monitoring of Choroidal Osteoma through Multimodal Imaging

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Theodoros Empeslidis ◽  
Usman Imrani ◽  
Vasileios Konidaris ◽  
Fizza Mushtaq ◽  
Pandelis Fotiou ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Subretinal Fluid ◽  
Interesting Case ◽  
Choroidal Neovascularisation ◽  
Optical Biopsy ◽  
Fundus Fluorescein Angiography ◽  
Choroidal Osteoma ◽  
History Of

A 16-year-old Caucasian female with a 6-month history of decreased visual acuity and metamorphopsia in the left eye is reported. The fundus of the left eye revealed a well defined lesion in the macula region. Diagnosis of choroidal osteoma was established using spectral domain optical coherence tomography (OCT), fundus fluorescein angiography (FFA), indocyanine green angiography (ICG), and B-scan ultrasonography. Subretinal fluid (SRF) and retinal pigment epithelium (RPE) detachment were noted in the absence of obvious classic choroidal neovascularisation (CNV). The patient was followed up for over 13 months without any treatment in the interim and the lesion was noted to have enlarged but visual acuity and SRF had remained stable. We report an interesting case where subretinal fluid was noted in the absence of evident choroidal neovascularisation and provide an example of the imaging modalities application in the era of “optical biopsy.”

Macular Telangiectasia Type 2 With Spontaneous Resolution of Intraretinal/Sub-Internal Limiting Membrane Hemorrhage in the Absence of Neovascularization

2017 ◽  
Vol 1 (6) ◽  
pp. 415-419 ◽  
Author(s):  
Varun Chandra ◽  
Rohan Merani ◽  
Alex P. Hunyor ◽  
I-Van Ho ◽  
Mark Gillies
Keyword(s):  
Visual Acuity ◽  
Multimodal Imaging ◽  
Internal Limiting Membrane ◽  
Macular Telangiectasia ◽  
Corrected Visual Acuity ◽  
Visual Improvement ◽  
Macular Telangiectasia Type 2 ◽  
The Right

Purpose: To describe a case of macular telangiectasia type 2 (MacTel) presenting with decreased vision due to intraretinal/sub-internal limiting membrane (ILM) hemorrhage in the absence of neovascularization. Method: Clinical examination and multimodal imaging were performed. Results: A 65-year-old female presented with blurred left vision, recording 20/160 in that eye. There was intraretinal hemorrhage at the left macula centrally, with sub-ILM hemorrhage superiorly and inferiorly. Optical coherence tomography (OCT) showed no evidence of subretinal neovascularization. Imaging of the right macula was consistent with MacTel. The blood spontaneously cleared and the left visual acuity gradually improved to 20/25 by 4 months. Fluorescein angiography confirmed MacTel, and once the hemorrhage resolved, both inner and outer retinal cavitation was identified on OCT of the left macula. The left best-corrected visual acuity remained at 20/25 at 2-year follow-up. Conclusion: Spontaneous resorption of hemorrhage was accompanied by visual improvement.

scholarly journals Long-term Clinical Course of Korean Patients Diagnosed with Macular Telangiectasia Type 2

2021 ◽  
Vol 62 (8) ◽  
pp. 1098-1104
Author(s):  
Kyung Hae Kang ◽  
Ji Hyun Yoon ◽  
Jong Woo Kim ◽  
Chul Gu Kim ◽  
Jae Hui Kim
Keyword(s):  
Visual Acuity ◽  
Final Visit ◽  
Ellipsoid Zone ◽  
Visual Deterioration ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
The Mean

Purpose: To evaluate long-term visual prognosis and changes in the retinal microstructure in patients with macular telangiectasia type 2.Methods: Retrospective analysis of medical records were performed for 61 eyes (32 patients) diagnosed with macular telangiectasia type 2. The visual acuity at diagnosis was compared with that at the final visit. In addition, cases were classified into three grades based on optical coherence tomography (OCT) findings: grade 1, inner retinal cavities only; grade 2, outer retinal cavities with ellipsoid zone disruption; and grade 3, ellipsoid zone disruption with proliferation of retinal pigment epithelium. Change in the grade during the follow-up was verified. In addition, visual acuities were compared between eyes with and without a change in grade.Results: The mean follow-up period was 41.5 ± 33.2 months. Visual acuity had deteriorated significantly from the mean logarithm of the minimal angle of resolution 0.23 ± 0.26 at diagnosis to a mean of 0.31 ± 0.31 at the final visit (p < 0.001). When classified using OCT, 65.6%, 22.9%, and 11.5% were grades 1, 2, and 3, respectively, at diagnosis and 47.5%, 36.1%, and 16.4% at the final visit. Progression of grade was noted in 22.9%. A higher degree of visual deterioration was noted in eyes showing progression than in eyes without (p = 0.002).Conclusions: During the long-term follow-up period, visual deterioration was noted in patients with macular telangiectasia type 2. However, the degree of deterioration was not high. Progression in the disruption of the retinal microstructure was the likely cause of visual deterioration.

scholarly journals Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area

Ophthalmology ◽  
2020 ◽  
Vol 127 (11) ◽  
pp. 1539-1548 ◽  
Author(s):  
Tjebo F.C. Heeren ◽  
Emily Y. Chew ◽  
Traci Clemons ◽  
Marcus Fruttiger ◽  
Konstantinos Balaskas ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
End Stage

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.

Spontaneous Closure of a Macular Hole in Macular Telangiectasia Type 2

2020 ◽  
pp. 247412642095890
Author(s):  
Varun Chandra ◽  
Rohan Merani ◽  
Alex P. Hunyor ◽  
Mark Gillies
Keyword(s):  
Macular Hole ◽  
Internal Limiting Membrane ◽  
Spontaneous Closure ◽  
Full Thickness ◽  
External Limiting Membrane ◽  
Macular Telangiectasia ◽  
History Of ◽  
Macular Telangiectasia Type 2 ◽  
The Right

Purpose: Spontaneous closure of a macular hole in macular telangiectasia type 2 (MacTel) with vision improvement is described. Methods: A case report is presented. Results: A 71-year-old man presented with a 1-week history of distorted vision in his left eye. Left visual acuity (LVA) was 20/80. Optical coherence tomography showed an almost full-thickness left macular hole with an intact internal limiting membrane drape. Small inner retinal cavitations were present at the right macula; multimodal imaging confirmed MacTel. Managed conservatively, at 5 months the patient’s LVA had improved to 20/60, the defect was no longer full thickness, and the external limiting membrane had reconstituted. At the right macula, the inner cavitations grew and outer cavitations developed, but the external limiting membrane remained intact. At 32 months, right VA was 20/20 and LVA was 20/40. Conclusions: This case of MacTel with spontaneous closure of a macular hole was associated with an overlying internal limiting membrane drape.

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