Genetics in Retinal Diseases—2nd Edition

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

Deadline for manuscript submissions: 20 March 2025 | Viewed by 1387

Special Issue Editor


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Guest Editor
Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK
Interests: retina; genetics; inherited retinal disease; genomics; genetic therapies; disease models; complex disease; monogenic disease; cornea; keratoconus
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Special Issue Information

Dear Colleagues,

Retinal diseases, ranging from common, complex diseases such as age-related macular degeneration to rare monogenic inherited retinal dystrophies, cumulatively affect millions of people, young and old, worldwide. Our understanding of the genetics underlying these conditions has expanded dramatically in recent years, providing exciting insights into the pathomechanisms of disease and already leading to the development of new therapies now reaching clinics.

This Special Issue will highlight current efforts to elucidate the genetic and molecular mechanisms of complex and monogenic retinal disease and how these may be targeted for therapeutic benefit. Topics may include identifying genetic causes of common or rare retinal diseases, patient cohort studies, genotype–phenotype correlations, the functional characterization of genetic variation in disease genes or gene regulatory elements using cellular or animal models, and the development of future therapeutic strategies. We would like to invite you to participate in this Special Issue by submitting original research articles, cohort studies, case reports, and review articles.

Dr. Chloe M. Stanton
Guest Editor

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Keywords

  • retina
  • genetics
  • inherited retinal disease
  • genomics
  • genetic therapies
  • disease models
  • disease mechanisms

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Published Papers (1 paper)

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Review

15 pages, 1066 KiB  
Review
The Microphthalmia-Associated Transcription Factor (MITF) and Its Role in the Structure and Function of the Eye
by Andrea García-Llorca and Thor Eysteinsson
Genes 2024, 15(10), 1258; https://doi.org/10.3390/genes15101258 - 27 Sep 2024
Viewed by 1127
Abstract
Background/Objectives: The microphthalmia-associated transcription factor (Mitf) has been found to play an important role in eye development, structure, and function. The Mitf gene is responsible for controlling cellular processes in a range of cell types, contributing to multiple eye development processes. [...] Read more.
Background/Objectives: The microphthalmia-associated transcription factor (Mitf) has been found to play an important role in eye development, structure, and function. The Mitf gene is responsible for controlling cellular processes in a range of cell types, contributing to multiple eye development processes. In this review, we survey what is now known about the impact of Mitf on eye structure and function in retinal disorders. Several mutations in the human and mouse Mitf gene are now known, and the effects of these on eye phenotype are addressed. We discuss the importance of Mitf in regulating ion transport across the retinal pigment epithelium (RPE) and the vasculature of the eye. Methods: The literature was searched using the PubMed, Scopus, and Google Scholar databases. Fundus and Optical Coherence Tomography (OCT) images from mice were obtained with a Micron IV rodent imaging system. Results: Defects in neural-crest-derived melanocytes resulting from any Mitf mutations lead to hypopigmentation in the eye, coat, and inner functioning of the animals. While many Mitf mutations target RPE cells in the eye, fewer impact osteoclasts at the same time. Some of the mutations in mice lead to microphthalmia, and ultimately vision loss, while other mice show a normal eye size; however, the latter, in some cases, show hypopigmentation in the fundus and the choroid is depigmented and thickened, and in rare cases Mitf mutations lead to progressive retinal degeneration. Conclusions: The Mitf gene has an impact on the structure and function of the retina and its vasculature, the RPE, and the choroid in the adult eye. Full article
(This article belongs to the Special Issue Genetics in Retinal Diseases—2nd Edition)
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