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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) belonging to the section "Ophthalmology".

Deadline for manuscript submissions: 15 October 2026 | Viewed by 4277

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

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

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

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Published Papers (3 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
Cited by 1 | Viewed by 1170
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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13 pages, 1546 KB  
Case Report
CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights
by Elisa Marziali, Chiavetta Elia, Sara Bargiacchi, Giorgia Mancano, Rosangela Artuso, Elia Dirupo, Lucia Tiberi, Marta Daniotti, Francesca Pochiero, Cesare Filippeschi, Teresa Oranges, Fabiana D’Esposito, Salvatore Angileri, Pina Fortunato, Roberto Caputo and Giacomo Maria Bacci
J. Clin. Med. 2026, 15(14), 5393; https://doi.org/10.3390/jcm15145393 - 9 Jul 2026
Viewed by 476
Abstract
Purpose: To describe the long-term, multimodal follow-up and multidisciplinary evaluation of two pediatric patients with CDH3-related retinopathy, discussing the genotypic and phenotypic spectrum of this rare cadherinopathy. Design: Retrospective observational case series. Methods: Two unrelated children with early-onset macular dystrophy and congenital [...] Read more.
Purpose: To describe the long-term, multimodal follow-up and multidisciplinary evaluation of two pediatric patients with CDH3-related retinopathy, discussing the genotypic and phenotypic spectrum of this rare cadherinopathy. Design: Retrospective observational case series. Methods: Two unrelated children with early-onset macular dystrophy and congenital hypotrichosis underwent a comprehensive ophthalmic examination, including spectral-domain optical coherence tomography (SD-OCT), blue-light fundus autofluorescence (BAF), microperimetry, and full-field electroretinography (ffERG), combined with dermatologic assessment and exome sequencing. Follow-up extended over 4 years in Patient 1 and 15 years in Patient 2. Results: Both patients showed sharply demarcated posterior pole chorioretinal atrophy with preservation of the peripheral retina and stable best-corrected visual acuity throughout follow-up. Microperimetry documented localized sensitivity loss with limited progression. SD-OCT revealed persistent ellipsoid zone disruption, retinal pigment epithelium atrophy, and outer retinal tubulations. Dermatologic evaluation confirmed congenital hypotrichosis without nail abnormalities; one patient exhibited mild fifth finger clinodactyly. Genetic testing identified the following two distinct homozygous CDH3 variants: a splice-site mutation (c.160+1G>A) and a frameshift insertion (c.1837dup, p.(Asp613Glyfs*4)). Conclusions:CDH3 retinopathy presents with a characteristic multimodal imaging pattern of localized macular atrophy and slow functional decline associated with congenital hypotrichosis. A comprehensive multidisciplinary approach was essential for the correct diagnosis and a better and more thorough definition of the clinical presentation. Detailed long-term follow-up supports the hypothesis of retinal pigment epithelium dysfunction or maldevelopment rather than widespread retinal degeneration. Recognition of this phenotype is critical for accurate diagnosis, genetic counseling, and future gene-therapy strategies targeting the preserved peripheral retina. 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 1967
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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