This article is a collaboration between three geneticists, educators, and researchers from the Neurobiology, Repair, and Neurodegeneration Laboratory at the National Eye Institute in Maryland: Holly Chen, Ordan Lehmann, and Anand Swaroop. The original place of publication is the biomedicine electronic journal, where all articles are peer-reviewed. The paper’s primary purpose is to review the available genetic issues in ocular morphogenesis, summarize advances in understanding visual disease with early onset, and evaluate innovative paradigms for therapeutic modalities.
During eye formation, the process is controlled for the most part by internal genetic programs that provide a high level of control, including temporal control. According to Chen et al. (2021), any disruption of such instructions due to genetic abnormalities can lead to noninherited or hereditary disorders. Such disorders can be both an early manifestation of visual problems in children and provoke visual impairment up to and including blindness later in life. In addition, the authors highlighted the limitations of modern medicine in treating such eye problems (Chen et al., 2021). The importance of developing new treatments for congenital eye disease through a genetically independent network approach is further highlighted.
The scientific importance of identifying specific phenotypes in time allows the characteristics of developmental mechanisms to be evaluated. Moreover, this importance is further reinforced by “the eye being an optically clear and uniquely accessible part of the central nervous system” (Chen et al., 2021, p. 1). Emphasis is likewise placed on understanding the critical stages of eye development in the mechanistic analysis of such disorders in children (Chen et al., 2021). A complete understanding of all genetically determined developmental processes and potential disorders at any stage extends not only the clinical knowledge of ophthalmology but also the development of the genetic part.
The audience for which the work is intended may include specialists in ophthalmology and genetics and a broader range of people, including medical students. The study does not include a specific sample of people, as it is not experimental but more descriptive and causal-comparative. The format of the paper itself includes a detailed description of the morphogenesis of the three most common abnormalities and genetic statistics for each. This information involves explaining each abnormality by a point genetic problem (Chen et al., 2021). Each of these problems is labeled with a protein, a number, and a gene symbol, as well as a description of the phenotype. Tables with this information relate to each of the listed diseases coloboma, Leber’s amaurosis, and glaucoma due to anterior segment dysgenesis of the eye.
The second half of the article is devoted to evaluating the therapeutic strategies, highlighting their strengths and weaknesses, and reasoning about their success. The main strategies of cell replacement therapy, large-molecule and small-molecule drugs, and gene therapy are highlighted (Chen et al., 2021). In addition to reviewing each strategy, Chen et al. (2021) raise questions that remain unresolved and formulate goals for future research. These include the further development of effective paradigms for genetic prevention and intrauterine treatment of such eye diseases.
Several observations are highlighted as findings of the study. For example, in the case of congenital diseases, it is possible to observe heterogeneity in phenotypes and genotypes (Chen et al., 2021). In addition, not all disease-promoting genes have been identified to date. Suppressive therapy and low molecular weight drugs are suggested to ensure the “survival of defective cells to partially achieve treatment goals” (Chen et al., 2021, p. 12). Thus, this article is of sufficient value for the reason of considering the morphogenesis of eye diseases from the side of genetic science.
Reference
Chen, H. Y., Lehmann, O. J., & Swaroop, A. (2021). Genetics and therapy for pediatric eye diseases. EBioMedicine, 67(1), 103360. Web.