Macular Telangiectasia Type 2 Without Clinically Detectable Vasculopathy

Gillies, Mark C; Mehta, Hemal; Bird, Alan C.

doi:10.1001/jamaophthalmol.2015.1796

Cited by 8 publications

(5 citation statements)

References 12 publications

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“…Overall, neurodegenerative signs appeared to dominate the phenotype of both Patients II.1 and II.3, more than what is typical for MacTel, although similar cases have also been reported in MacTel. 42 Secondary neovascularisation, an optional late complication of MacTel -also reported in patients with CYP2U1 mutations 7, 14 -, was not seen in our patients.…”

Section: Discussionsupporting

confidence: 39%

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

Vaclavik

Sallo

Munier

et al. 2023

Preprint

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Purpose To report the retinal phenotype in two patients simulating type 2 macular telangiectasis with new variants in CYP2U1 implicated in Hereditary Spastic Paraplegia type 56 (HSP 56). Methods Five members of a non-consanguineous family (parents and three male children) were investigated. All family members underwent a full ophthalmological evaluation and multimodal retinal imaging. Two family members demonstrating retinal anomalies underwent additional OCT angiography, dual wavelength autofluorescence and fluorescence lifetime imaging ophthalmoscopy, kinetic perimetry, fundus-correlated microperimetry, electroretinography and electro-oculography. Whole exome sequencing was performed in all five family members. Results The two siblings with compound heterozygous novel variants c.452C>T; p.(Pro151Leu), c.943C>T; p.(Gln315Ter) in CYP2U1 demonstrated parafoveal loss of retinal transparency and hyperreflectivity to blue light, redistribution of luteal pigment to the parafoveal edge, photoreceptor loss, FLIO anomalies: a pattern compatible with that seen in macular telangiectasia type 2 (MacTel). One had manifest neurological abnormalities since early childhood, the second had no neurological abnormalities. Each parent and the third sibling were heterozygous for one variant and were neurologically and ophthalmologically normal. Conclusion These CYP2U1 variants are associated with a retinal phenotype very similar to that otherwise specific for MacTel, suggestive of possible links in the aetiology/pathogenesis of these diseases.

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Section: Discussionsupporting

confidence: 39%

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

Vaclavik

Sallo

Munier

et al. 2023

Preprint

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“…A recent case report reported on a MacTel type 2 patient without clinically detectable vasculopathy 4 . We also found 8 of 111 eyes (7.2%) without late-phase hyperfluorescence (Fig.…”

Section: Resultsmentioning

confidence: 99%

Optical coherence tomographic features of macular telangiectasia type 2: Korean Macular Telangiectasia Type 2 Study—Report No. 1

Kim

Chung

et al. 2020

Sci Rep

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We analysed the imaging findings of macular telangiectasia (MacTel) type 2 in Korea using spectral domain optical coherence tomography (SD-OCT) and investigated their relationship with visual acuity and clinical stages. A retrospective multicentre cross-sectional study was conducted in six tertiary hospitals in Korea and included 129 patients. We analysed all the SD-OCT images encompassing the macular area. Hyporeflective cavities (77.7%) were the most frequently detected abnormalities in SD-OCT. Disruption of the external limiting membrane, ellipsoid zone, and interdigitation zone were found in 67 (40.4%), 87 (52.4%), and 94 eyes (56.6%), respectively. Four eyes (2.4%) had lamellar macular hole, and five eyes (3.0%) full-thickness macular hole. Neovascularisation, either subretinal or intraretinal, was found in 14 eyes (8.4%). Eyes with outer retinal hyperreflective band disruption had lower visual acuity than those without them. The presented characteristic clinical features of OCT in MacTel type 2 can not only aid in differentiating this disease from others but are also helpful for better judgement of the disease stage in daily clinical practice. Inner retinal hyporeflective cavities without outer retinal abnormalities on SD-OCT, although classified as severity scale 3, could be considered a relatively early stage in the disease process in terms of vision.

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“…Examination findings can be subtle and often lead to the misdiagnosis of MacTel as another condition, such as age-related macular degeneration (AMD), macular hole, or diabetic macular edema (DME). While MacTel was initially considered to be primarily a microvascular condition, recent evidence supports its reclassification as a neurodegenerative condition due to the depletion of Müller glial cells of the retina [ 4 , 5 ]. Patients with MacTel typically present in the sixth or seventh decades of life, complaining first of difficulty reading or metamorphopsia [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Use of OCT Angiography to Diagnose and Manage Atypical Presentations of Macular Telangiectasia Type 2

Moir

Amin

Khanna

et al. 2022

IJMS

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Macular telangiectasia Type 2 (MacTel) is a bilateral acquired retinal disease characterized by both vascular changes and atrophy of the retina. The purpose of this case series is to highlight the use of optical coherence tomography angiography (OCTA) as a non-invasive imaging modality to distinguish atypical MacTel from other macular conditions with similar presentations. We performed a retrospective review of patients referred to our academic retinal practice with unconfirmed or misdiagnosed MacTel between July 2017 and July 2021. Patients’ OCTA imaging findings were reviewed to guide the appropriate diagnosis and management of atypical MacTel. Fifteen eyes from eight patients were included in this study. Six patients were referred with previous diagnoses of either full-thickness macular hole, lamellar hole, vitreomacular traction (VMT), postoperative cystoid macular edema (CME), or diabetic macular edema (DME). Two patients were referred to us to confirm the diagnosis of MacTel. OCTA revealed telangiectatic vessels in the temporal parafovea of all 15 eyes. OCTA also highlighted previously undiagnosed subretinal neovascularization (SRNV) in seven eyes. OCTA imaging is a valuable imaging modality to distinguish MacTel from other macular conditions, whose treatment courses vary substantially. Due to its ease of use, it holds immense potential in the future as treatments for non-proliferative MacTel emerge.

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Macular Telangiectasia Type 2 Without Clinically Detectable Vasculopathy

Cited by 8 publications

References 12 publications

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

Optical coherence tomographic features of macular telangiectasia type 2: Korean Macular Telangiectasia Type 2 Study—Report No. 1

Use of OCT Angiography to Diagnose and Manage Atypical Presentations of Macular Telangiectasia Type 2

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