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Current Advances in Inherited Retinal Disease
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Current Advances in Inherited Retinal Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 December 2025 | Viewed by 1984

Special Issue Editor

Prof. Dr. Se Joon Woo

E-Mail Website
Guest Editor
Department of Ophthalmology, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si 13620, Gyeonggi-do, Republic of Korea
Interests: inherited retinal diseases; retinal artery occlusion; age-related macular degeneration; biosimilars; diabetic retinopathy; ocular drug delivery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inherited retinal disease (IRD) is a major cause of bilateral visual decline and blindness worldwide. To date, there is no definitive treatment option for this condition. Recently, there have been advances in the field of genetic diagnosis, and new treatment methods have been introduced, including gene therapy and genome editing. Since the approval of gene therapy for RPE65-related IRD, the future of IRD treatment appears bright, and more patients with IRD may be saved from blindness as more advanced technology is developed. To achieve better visual outcomes for IRD patients, a greater understanding of IRD, including genetics, mechanisms, clinical features, and preclinical and clinical trial results related to the conditions, is needed by physicians, researchers, and patients alike, as well as by pharmaceutical companies and governments.

For this Special Issue, we welcome reviews and original articles on the study of IRD. Potential topics include, but are not limited to, the genetic and molecular mechanisms behind IRD, diagnosis, clinical features and imaging in IRD cases, epidemiology, ethnic variability, preclinical research, and clinical trials to develop new treatments. We look forward to receiving your contributions.

Prof. Dr. Se Joon Woo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

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

  • inherited retinal diseases
  • retinitis pigmentosa
  • macular dystrophy
  • cone dystrophy
  • genotype
  • gene therapy
  • clinical trial
  • imaging
  • genetic mechanism
  • genome editing
  • phenotype

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Published Papers (3 papers)

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9 pages, 1574 KB  
Article
Clinical and Molecular Findings in PROM1-Associated Inherited Retinal Dystrophies
by Fabiana D’Esposito, Caterina Gagliano, Sabrina Vallone, Francesco Cappellani, Giuseppe Gagliano, Viviana Randazzo, Daniele Tognetto, Gabriella Esposito and Marco Zeppieri
Genes 2025, 16(11), 1299; https://doi.org/10.3390/genes16111299 - 1 Nov 2025
Viewed by 448
Abstract
Background: Inherited retinal dystrophies (IRDs) include a clinically and genetically diverse array of conditions resulting in progressive visual impairment. The PROM1 gene is crucial for the development and maintenance of photoreceptors. Variants in PROM1 are linked to a wide phenotypic spectra of IRDs; [...] Read more.
Background: Inherited retinal dystrophies (IRDs) include a clinically and genetically diverse array of conditions resulting in progressive visual impairment. The PROM1 gene is crucial for the development and maintenance of photoreceptors. Variants in PROM1 are linked to a wide phenotypic spectra of IRDs; however, the correlation between genotype and phenotype is not fully elucidated. Comprehending these relationships is essential for enhanced diagnostic precision, patient guidance, and formulation of focused treatments. Objective: This study aims to examine the genotype–phenotype associations in patients with PROM1-associated IRDs. Clinical variability and inheritance patterns linked to different pathogenic variants are examined, aiming to clarify their different behaviors. Methods: We performed a retrospective investigation of patients identified as affected by PROM1-related IRDs. Thorough ophthalmologic assessments, including retinography, fundus autofluorescence, optical coherence tomography (OCT), and electrodiagnostic testing (EDT), were conducted. Genetic testing was performed via targeted gene panels or whole-exome sequencing. Variants were categorized based on ACMG criteria, and inheritance patterns were determined by familial segregation analysis. Clinical characteristics were analyzed among genotypic groups to ascertain potential phenotype–genotype relationships. Results: All patients had pathogenic or likely pathogenic PROM1 mutations. Both autosomal dominant and autosomal recessive inheritance patterns were identified. Dominant pathogenic variants were predominantly linked to late-onset cone-rod dystrophy or macular dystrophy, whereas biallelic variants frequently resulted in early-onset severe rod–cone dystrophy characterized by fast vision deterioration. A group of patients with the same genotypes displayed significant phenotypic variability, indicating the potential impact of modifier genes or environmental influences. Truncating mutations in the N-terminal region were significantly associated with earlier illness onset and greater functional impairment. Conclusions: PROM1-related IRDs demonstrated significant clinical and genetic heterogeneity, with the route of inheritance and type of variant affecting disease severity and progression. Our findings underscore the significance of thorough genotypic and phenotypic characterization in afflicted individuals. A deeper comprehension of PROM1-related IRD disease pathways can enhance prognosis, direct clinical care, and facilitate the advancement of genotype-based therapy strategies. Full article
(This article belongs to the Special Issue Current Advances in Inherited Retinal Disease)
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13 pages, 1784 KB  
Article
Dark Rearing Does Not Alter Developmental Retinoschisis Cavity Formation in Rs1 Gene Knockout Rat Model of X-Linked Retinoschisis
by Zeljka Smit-McBride, In Hwan Cho, Ning Sun, Serafina Thomas and Paul A. Sieving
Genes 2025, 16(7), 815; https://doi.org/10.3390/genes16070815 - 11 Jul 2025
Viewed by 867
Abstract
Background/Objective: The Rs1 exon-1-del rat (Rs1KO) XLRS model shows normal retinal development until postnatal day 12 (P12) when small cystic spaces start to form in the inner nuclear layer. These enlarge rapidly, peak at P15, and then collapse by P19. These events overlap [...] Read more.
Background/Objective: The Rs1 exon-1-del rat (Rs1KO) XLRS model shows normal retinal development until postnatal day 12 (P12) when small cystic spaces start to form in the inner nuclear layer. These enlarge rapidly, peak at P15, and then collapse by P19. These events overlap with eye opening at P12–P15. We investigated whether new light-driven retinal activity could contribute to the appearance and progression of schisis cavities in this rat model of XLRS disease. Methods: For dark rearing (D/D), mating pairs of Rs1KO strain were raised in total darkness in a special vivarium at UC Davis. When pups were born, they were maintained in total darkness, and eyes were collected at P12, P15, and P30 (n = 3/group) for each of the D/D and cyclic light-reared 12 h light–12 h dark (L/D) Rs1KO and wild-type (WT) littermates. Eyes were fixed, paraffin-embedded, and sectioned. Tissue morphology was examined by H&E and marker expression of retinoschisin1 (Rs1), rhodopsin (Rho), and postsynaptic protein 95 (Psd95) by fluorescent immunohistochemistry. H&E-stained images were analyzed with ImageJ version 1.54h to quantify cavity size using the “Analyze Particles” function. Results: Small intra-retinal schisis cavities begin to form by P12 in the inner retina of both D/D and L/D animals. Cavity formation was equivalent or more pronounced in D/D animals than in L/D animals. We compared Iba1 (activation marker of immune cells) distribution and found that by P12, when schisis appeared, Iba1+ cells had accumulated in regions of schisis. Iba1+ cells were more abundant in Rs1KO animals than WT animals and appeared slightly more prevalent in D/D- than L/D-reared Rs1KO animals. We compared photoreceptor development using Rho, Rs1, and Psd95 expression, and these were similar; however, the outer segments (OSs) of D/D animals with Rho labeling at P12 were longer than L/D animals. Conclusions: The results showed that cavities formed at the same time in D/D and L/D XLRS rat pups, indicating that the timing of schisis formation is not light stimulus-driven but rather appears to be a result of developmental events. Cavity size tended to be larger under dark-rearing conditions in D/D animals, which could be due to the decreased rate of phagocytosis by the RPE in the dark, allowing for continued growth of the OSs without the usual shedding of the distal tip, a key mechanism behind dark adaptation in the retina. These results highlight the complexity of XLRS pathology; however, we found no evidence that light-driven metabolic activity accounted for schisis cavity formation. Full article
(This article belongs to the Special Issue Current Advances in Inherited Retinal Disease)
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11 pages, 2253 KB  
Case Report
Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy
by Andrea Cusumano, Marco Lombardo, Benedetto Falsini, Michele D’Ambrosio, Jacopo Sebastiani, Enrica Marchionni, Maria Rosaria D’Apice, Barbara Rizzacasa, Francesco Martelli and Giuseppe Novelli
Genes 2025, 16(12), 1407; https://doi.org/10.3390/genes16121407 - 26 Nov 2025
Viewed by 251
Abstract
Background: INPP5E-related retinopathy (INPP5E-RR) is a rare genetic disorder caused by biallelic pathogenic variants in the INPP5E gene, which encodes an enzyme critical for phosphoinositide signaling. While early-onset rod–cone dystrophy is a hallmark feature, detailed longitudinal data on the [...] Read more.
Background: INPP5E-related retinopathy (INPP5E-RR) is a rare genetic disorder caused by biallelic pathogenic variants in the INPP5E gene, which encodes an enzyme critical for phosphoinositide signaling. While early-onset rod–cone dystrophy is a hallmark feature, detailed longitudinal data on the phenotype are scarce. This study aims to report a 6-year longitudinal assessment of retinal structure and function in a case of non-syndromic INPP5E-RR. Methods: A 42-year-old female proband with compound heterozygous pathogenic missense variants in INPP5E (p.Arg486Cys and p.Arg378Cys) was monitored from 2019 to 2025. She underwent serial comprehensive ophthalmologic evaluations, including optical coherence tomography (OCT), fundus autofluorescence, adaptive optics transscleral flood illumination, full-field 30Hz flicker electroretinography (ERG), and macular frequency-doubling technology perimetry. Results: Over the 6-year follow-up, OCT imaging revealed a progressive decline in the ellipsoid zone (EZ) width, from 1220 µm to 720 µm (~80 µm/year), and in the inner nuclear layer (INL) thickness. The central outer nuclear layer (ONL) thickness was preserved, but intraretinal cysts developed. Functional testing revealed a progressive decline in cone flicker ERG amplitudes, while visual acuity and macular perimetry remained stable. Conclusions: In this genotypically confirmed case, the longitudinal data identify EZ width, INL thickness, and cone flicker ERG as robust biomarkers of disease progression in INPP5E-RR. These parameters are ideal candidates for monitoring therapeutic outcomes in future clinical trials. Full article
(This article belongs to the Special Issue Current Advances in Inherited Retinal Disease)
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