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


Journal

The British journal of ophthalmology
ISSN: 1468-2079
Titre abrégé: Br J Ophthalmol
Pays: England
ID NLM: 0421041

Informations de publication

Date de publication:
04 2021
Historique:
received: 17 09 2020
revised: 23 11 2020
accepted: 16 12 2020
pubmed: 9 1 2021
medline: 16 6 2021
entrez: 8 1 2021
Statut: ppublish

Résumé

Macular 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. Different 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). Of 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. The 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.

Sections du résumé

BACKGROUND
Macular 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.
METHODS
Different 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).
RESULTS
Of 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.
CONCLUSIONS
The 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.

Identifiants

pubmed: 33414243
pii: bjophthalmol-2020-317997
doi: 10.1136/bjophthalmol-2020-317997
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

573-576

Informations de copyright

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: DP and AB are members of the international MacTel Consortium and have received travel support for the meeting of this Study Group from the LMRI.

Auteurs

Stefanie Mueller (S)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.

Frederic Gunnemann (F)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.
Retinal Disorders and Ophthalmic Genetics, Jules Stein Eye Institute, Los Angeles, California, USA.

Kai Rothaus (K)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.

Marius Book (M)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.

Henrik Faatz (H)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany.

Alan Bird (A)

Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.

Daniel Pauleikhoff (D)

Department of Ophthalmology, St. Franziskus Hospital, Münster, Germany dapauleikhoff@muenster.de.
Department of Ophthalmology, University of Duisburg-Essen Faculty of Medicine, Essen, Nordrhein-Westfalen, Germany.

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Classifications MeSH