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Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease

  • Retinal Disorders
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Abstract

Purpose

The purpose of our study was to investigate morpho-functional features of the preferred retinal location (PRL) and the transition zone (TZ) in a series of patients with recessive Stargardt disease (STGD1).

Methods

Fifty-two STGD1 patients with at least one ABCA4 mutation, atrophy of the central macula (MA) and an eccentric PRL were recruited for the study. Microperimetry, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) were performed. The location and stability of the PRL along with the associated FAF pattern and visual sensitivities were determined and compared to the underlying retinal structure.

Results

The mean visual sensitivity of the PRLs for the 52 eyes was 10.76 +/- 3.70 dB. For the majority of eyes, PRLs were associated with intact ellipsoid zone (EZ) bands and qualitatively normal FAF patterns. In 17 eyes (32.7%) the eccentric PRL was located at the edge of the MA. In 35 eyes (67.3%) it was located at varying distances from the border of the MA with a TZ between the PRL and the MA. The TZ was associated with decreased sensitivity values (5.92 +/- 4.69 dB) compared to PRLs (p<0.05), with absence/disruption of the EZ band and abnormal FAF patterns (hyper or hypo-autofluorescence).

Conclusions

In STGD1 eccentric PRLs are located away from the border of MA and associated with intact EZ bands and normal FAF. The TZ is characterized by structural and functional abnormalities. The results of multimodal imaging of the PRL and TZ suggest a possible sequence of retinal and functional changes with disease progression that may help in the planning of future therapies; RPE dysfunction appears to be the primary event leading to photoreceptor degeneration and then to RPE loss.

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Authors and Affiliations

  1. Institute of Ophthalmology, University of Modena and Reggio Emilia, Via del Pozzo 71, 41100, Modena, Italy

    Tommaso Verdina & Gian Maria Cavallini

  2. Department of Ophthalmology, Columbia University, New York, NY, USA

    Vivienne C. Greenstein, Stephen H. Tsang, Tomas R. Burke & Rando Allikmets

  3. Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla 3, Florence, 50134, Italy

    Andrea Sodi, Gianni Virgili & Stanislao Rizzo

  4. Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA

    Stephen H. Tsang & Rando Allikmets

  5. Department of Genetic Diagnostics, Azienda Ospedaliero Universitaria Careggi, Florence, Italy

    Ilaria Passerini

Authors
  1. Tommaso Verdina
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  2. Vivienne C. Greenstein
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  3. Andrea Sodi
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  4. Stephen H. Tsang
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  5. Tomas R. Burke
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  6. Ilaria Passerini
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  7. Rando Allikmets
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  8. Gianni Virgili
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  9. Gian Maria Cavallini
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  10. Stanislao Rizzo
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Correspondence to Tommaso Verdina.

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Funding

The National Eye Institute/NIH EY09076, Foundation Fighting Blindness and Research to Prevent Blindness of the Department of Ophthalmology, Columbia University provided financial support in the form of grants. S.H.T., a member of the RD-CURE Consortium, is supported by the Tistou and Charlotte Kerstan Foundation, the Schneeweiss Stem Cell Fund, New York State [C029572], the Foundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312], and the Joel Hoffman Fund. The sponsors had no role in the design or conduct of this research.

Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required.

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Verdina, T., Greenstein, V.C., Sodi, A. et al. Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease. Graefes Arch Clin Exp Ophthalmol 255, 1307–1317 (2017). https://doi.org/10.1007/s00417-017-3637-6

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  • DOI: https://doi.org/10.1007/s00417-017-3637-6

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