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Retinal Dystrophies—Structure and Function Relationship
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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 April 2026 | Viewed by 1339

Special Issue Editor

Prof. Dr. Katarzyna Nowomiejska

E-Mail Website
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 (2 papers)

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Research

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14 pages, 858 KB  
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 641
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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16 pages, 2979 KB  
Case Report
Mitochondrial Macular Dystrophy—A Case Report and Mini Review of Retinal Dystrophies
by Grzegorz Rotuski, Katarzyna Paczwa, Justyna Mędrzycka, Radosław Różycki and Joanna Gołębiewska
J. Clin. Med. 2025, 14(22), 8236; https://doi.org/10.3390/jcm14228236 - 20 Nov 2025
Viewed by 455
Abstract
Background: Retinal dystrophies are often challenging to diagnose. At early stages, they may resemble benign retinal pigment epithelium alterations and drusen present in otherwise healthy individuals. With the increased incidence of autoimmunity-related disorders and new treatments for retinal dystrophies on the horizon, [...] Read more.
Background: Retinal dystrophies are often challenging to diagnose. At early stages, they may resemble benign retinal pigment epithelium alterations and drusen present in otherwise healthy individuals. With the increased incidence of autoimmunity-related disorders and new treatments for retinal dystrophies on the horizon, thorough investigations and making the correct diagnosis in time are particularly important for these patients. Case report: A 44-year-old myopic female was admitted to the Ophthalmology Department with a 3-week history of painless blurred vision in her right eye. Fundoscopic examination revealed the presence of optic disc edema in this eye with pigmentary and atrophic changes in the macular regions of both eyes. She had no prior ophthalmic history nor systemic comorbidities known at the time. Marked hyperglycemia and renal angiomyolipoma were discovered subsequently. Ultimately, a diagnosis of Maternally Inherited Diabetes and Deafness was made. Discussion and Conclusion: Maternally Inherited Diabetes and Deafness is a rare mitochondrial disorder that should be considered in the differential diagnosis of retinal dystrophies, particularly due to multi-organ syndromes they can occur with, requiring collaborative medical care of several specialists. Integrating the findings and comparing them with other online sources facilitates clinical differential and treatment selection, eventually promoting faster accurate diagnosis of patients. It is especially important because of a long waiting time for results of genetic testing, while ophthalmic pathology can be the first sign of the disease. Full article
(This article belongs to the Special Issue Retinal Dystrophies—Structure and Function Relationship)
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