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Retinal Dystrophies—Structure and Function Relationship

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 15 October 2025 | Viewed by 356

Special Issue Editor


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Guest Editor
Department of General Ophthalmology, Medical University of Lublin, Lublin, Poland
Interests: ophthalmology; vitreoretinal surgery; eye trauma; retinal dystrophies; optic neuropathies; cataract surgery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue aims to explore the relationship between structural changes and functional impairment in retinal degenerative diseases such as retinitis pigmentosa. Through clinical observation, the degeneration mechanism of photoreceptor cells and its impact on visual function will be analyzed, emphasizing the importance of early diagnosis and intervention. In addition, the Special Issue will also discuss emerging treatment strategies, including gene therapy, cell therapy, and drug intervention, to guide clinical practice. Moreover, investigations of structural changes in the visual pathway observed in patients with retinal dystrophies are also welcome, as they may be important in future clinical trials. We hope that the publication of this Special Issue will promote the understanding and research of retinal degenerative diseases.

Prof. Dr. Katarzyna Nowomiejska
Guest Editor

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Keywords

  • retinal dystrophies
  • structural changes
  • functional impairment
  • in retinal degenerative diseases
  • retinitis pigmentosa

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Published Papers (1 paper)

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Research

14 pages, 858 KiB  
Article
Lateral Geniculate Nucleus Volume Assessed by 7 Tesla MRI 3D MT-Weighted SILENT Protocol in Patients with STARGARDT Disease—Pilot Study
by Agata Szpringer-Wabicz, Katarzyna Nowomiejska, Anna Niedziałek, Michał Toborek, Katarzyna Wiśniewska, Mateusz Midura, Mark Symms, Robert Rejdak and Radosław Pietura
J. Clin. Med. 2025, 14(16), 5666; https://doi.org/10.3390/jcm14165666 - 11 Aug 2025
Viewed by 214
Abstract
Background/Objectives: To quantitatively assess lateral geniculate nucleus (LGN) volume using 7 Tesla MRI in patients with Stargardt disease (STGD). Methods: A total of 18 patients with STGD and 15 healthy volunteers were examined with a 7 Tesla MRI of the brain. Measures of [...] Read more.
Background/Objectives: To quantitatively assess lateral geniculate nucleus (LGN) volume using 7 Tesla MRI in patients with Stargardt disease (STGD). Methods: A total of 18 patients with STGD and 15 healthy volunteers were examined with a 7 Tesla MRI of the brain. Measures of LGN volume were performed manually by three independent investigators (radiologists) using ITK-SNAP software, version 4.0.0-rc.2. The volume of the thalamus was evaluated using the open-source automated software package FreeSurfer. Before 7 Tesla MRI, patients underwent ophthalmic examination and 1.5 Tesla MRI. Results: The average LGN volume in both hemispheres was significantly smaller in patients with STGD (right, −111.2 mm3; left, 107.4 mm3) than in the control group (right, −128.7 mm3; left, 123.6 mm3, respectively) (p < 0.0001). The ratio of LGN to thalamus in the right hemisphere was significantly lower (p = 0.024) in the group of patients with STGD (0.014) than in the control group (0.017). Conclusions: The right and left LGN volumes in MR 7T imaging, as well as the right LGN/thalamus ratio, were reduced in patients with STGD compared to controls. 7T MRI using the 3D MT-weighted SILENT protocol provides new insight into structural changes in the brain in retinal dystrophies and offers a possible marker of the response to future therapies in STGD. Full article
(This article belongs to the Special Issue Retinal Dystrophies—Structure and Function Relationship)
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