Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report

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Abstract

Background

To report the results of multimodal imaging of a biochemically confirmed case of a family with gyrate atrophy (GA) associated with foveoschisis and macular pseudohole.

Case presentation

Two sisters presented to us with progressive bilateral decreased vision. The 26-year old sister had a best corrected visual acuity (BCVA) of 20/32 in the right eye (RE) and 20/100 in the left eye (LE). Dilated fundus examination revealed multiple bilateral chorioretinal atrophy areas in the midperipheral and peripheral retina. Fluorescein angiography did not show any leak in the macular area. Swept-source optical coherence tomography (SS-OCT) showed increased central macular thickness in both eyes with foveoschisis. Optical coherence tomography angiography (OCTA) showed petaloid non-reflective areas and some perifoveal microvascular alterations similar to telangiectasias in the deep capillary complex. The 30-year-old sister had a BCVA of 20/20 in the RE and 20/32 in the LE. SS-OCT was normal in the RE and demonstrated a macular pseudohole with a fine epiretinal membrane in the LE. The persistent retinal tissue at the base of the pseudohole was disorganised. Blood tests showed hyperornithinemia in the 2 cases. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina and were treated with a pyridoxine supplement and an arginine-restricted diet.

Conclusions

Foveoschisis and macular pseudohole may be associated in GA, increasing the risk of rapid vision loss. OCTA is an interesting imaging tool that can help to better understand the pathophysiological mechanism of these macular involvements in GA.

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Most cited references 19

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X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Robert Molday, Ulrich Kellner, Bernhard Weber (2012)

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an N-terminal cleavable signal sequence, and regions responsible for subunit oligomerization. Retinoschisin is secreted from retinal cells as a disulphide-linked homo-octameric complex which binds to the surface of photoreceptors and bipolar cells to help maintain the integrity of the retina. Over 190 disease-causing mutations in the RS1 gene are known with most mutations occurring as non-synonymous changes in the discoidin domain. Cell expression studies have shown that disease-associated missense mutations in the discoidin domain cause severe protein misfolding and retention in the endoplasmic reticulum, mutations in the signal sequence result in aberrant protein synthesis, and mutations in regions flanking the discoidin domain cause defective disulphide-linked subunit assembly, all of which produce a non-functional protein. Knockout mice deficient in retinoschisin have been generated and shown to display most of the characteristic features found in XLRS patients. Recombinant adeno-associated virus (rAAV) mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long-term retinoschisin expression and rescue of retinal structure and function providing a 'proof of concept' that gene therapy may be an effective treatment for XLRS. Copyright © 2012 Elsevier Ltd. All rights reserved.

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Factors associated with foveoschisis and foveal detachment without macular hole in high myopia.

Michael C Wu, Julian C-H Chen, Jae-Ho Shin … (2009)

To investigate the associated factors of foveoschisis and foveal detachment without macular hole in highly myopic eyes. A cross-sectional study of 124 eyes of 68 highly myopic patients was performed. The patients underwent complete ocular examination, fundus photography, and optical coherence tomography (OCT). Of the 124 eyes, 10 (8%, 10/124) had foveoschisis or foveal detachment without a macular hole on OCT examination. On the basis of univariate analysis, six variables were associated with the pathologic changes, including age over 40 years (P=0.018), spherical equivalent over 10 D (P=0.042), axial length over 31 mm (P=0.001), macular chorioretinal atrophy (P=0.00003), posterior staphyloma (P=0.0003), and vitreoretinal interface factors, including epiretinal membrane, posterior vitreoschisis, and vitreomacular traction (P=0.00002). In the multivariate analysis, three factors were independently associated with foveoschisis and foveal detachment without macular hole in high myopia: axial length, macular chorioretinal atrophy, and vitreoretinal interface factors. Foveoschisis and foveal detachment without macular hole are sight-threatening disorders in highly myopic eyes. Axial length, macular chorioretinal atrophy, and vitreoretinal interface factors were independently associated with these pathological conditions. Thus, both intraocular and outer ocular wall factors play important roles and merit further study.

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Myopic foveoschisis: a clinical review.

G Kiousis, Y. Yang, S Sivaprasad … (2015)

To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic foveoschisis. A systematic Pubmed search was conducted using search terms: myopia, myopic, staphyloma, foveoschisis, and myopic foveoschisis. The evidence base for each section was organised and reviewed. Where possible an authors' interpretation or conclusion is provided for each section. The term myopic foveoschisis was first coined in 1999. It is associated with posterior staphyloma in high myopia, and is often asymptomatic initially but progresses slowly, leading to loss of central vision from foveal detachment or macular hole formation. Optical coherence tomography is used to diagnose the splitting of the neural retina into a thicker inner layer and a thinner outer layer, but compound variants of the splits have been identified. Vitrectomy with an internal limiting membrane peel and gas tamponade is the preferred approach for eyes with vision decline. There has been a surge of new information on myopic foveoschisis. Advances in optical coherence tomography will continually improve our understanding of the pathogenesis of retinal splitting, and the mechanisms that lead to macular damage and visual loss. Currently, there is a good level of consensus that surgical intervention should be considered when there is progressive visual decline from myopic foveoschisis.

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Author and article information

Contributors

Imène Zhioua Braham:

ORCID: http://orcid.org/0000-0002-8911-0139

imenezhiouabraham@gmail.com

Imen Ammous: ammousimen@gmail.com

Rim Maalej: mj.rima@hotmail.fr

Majdi Boukari: boukarimejdi@gmail.com

Ilhem Mili Boussen: ilhemmiliboussen@gmail.com

Khalil Errais: errais.khalil@gmail.com

Raja Zhioua: rajazhioua@gmail.com

Journal

Journal ID (nlm-ta): BMC Ophthalmol

Journal ID (iso-abbrev): BMC Ophthalmol

Title: BMC Ophthalmology

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2415

Publication date (Electronic): 12 April 2018

Publication date PMC-release: 12 April 2018

Publication date Collection: 2018

Volume: 18

Electronic Location Identifier: 89

Affiliations

ISNI 0000000122959819, GRID grid.12574.35, Department of Ophthalmology, , Charles Nicolle University Hospital, Faculty of medicine of Tunis, University of Tunis-El Manar, ; 1007 Tunis, Tunisia

Author information

Imène Zhioua Braham http://orcid.org/0000-0002-8911-0139

Article

Publisher ID: 755

DOI: 10.1186/s12886-018-0755-9

PMC ID: 5897997

PubMed ID: 29649987

SO-VID: 806b95ce-ca0f-4f87-9644-87648f454c79

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 9 January 2018

Date accepted : 29 March 2018

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ScienceOpen disciplines: Ophthalmology & Optometry

Keywords: gyrate atrophy,foveoschisis,macular pseudohole,optical coherence tomography angiography

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ScienceOpen disciplines: Ophthalmology & Optometry

Keywords: gyrate atrophy, foveoschisis, macular pseudohole, optical coherence tomography angiography

Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report

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Abstract

Background

Case presentation

Conclusions

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Karger: Ophthalmology

Most cited references 19

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Factors associated with foveoschisis and foveal detachment without macular hole in high myopia.

Myopic foveoschisis: a clinical review.

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