The Charles F. Prentice award lecture 2009: Crystalline lens research and serendipity in science
Optom Vis Sci. 2010 Sep;87(9):622-30. doi: 10.1097/OPX.0b013e3181e87d8b. ABSTRACT Whether it is called serendipity or creativity, the process of scientific discovery is not one that lends itself to advance planning or programming, nor does it lend itself to an emphasis solely on applied research, research with industrial partners, or large teams of researchers because researchers must […]
Glutaredoxin 2 protects lens epithelial cells from epithelial-mesenchymal transition by suppressing mitochondrial oxidative stress-related upregulation of integrin-linked kinase
Exp Eye Res. 2023 Aug 2:109609. doi: 10.1016/j.exer.2023.109609. Online ahead of print. ABSTRACT Glutaredoxin 2 (Grx2), a mitochondrial glutathione-dependent oxidoreductase, is crucial for maintaining redox homeostasis and cellular functions in the lens. The oxidative stress-induced epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is related to posterior capsule opacification. In this study, we investigated the […]
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
J Biomed Sci. 2023 Aug 3;30(1):63. doi: 10.1186/s12929-023-00951-1. ABSTRACT BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is no effective treatment for this disease. LHON-linked ND6 14484T > C (p.M64V) mutation caused complex I deficiency, diminished ATP production, increased production of reactive oxygen […]
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review
Am J Med Genet A. 2023 Aug 2. doi: 10.1002/ajmg.a.63361. Online ahead of print. ABSTRACT Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33-year-old male who presented with a 16-year history of diarrhea with black stool and progressive weight loss. […]
REG1A protects retinal photoreceptors from blue light damage
Ann N Y Acad Sci. 2023 Aug 2. doi: 10.1111/nyas.15045. Online ahead of print. ABSTRACT With the increased use of artificial light and the prolonged use of optoelectronic products, light damage (LD) to the human retina has been identified as a global vision-threatening problem. While there is evidence of a significant correlation between light-induced retinal […]
Histopathological View of Benign Essential Blepharospasm: Orbicularis Oculi Hormone Receptor Levels
Beyoglu Eye J. 2023 May 1;8(2):110-114. doi: 10.14744/bej.2023.16779. eCollection 2023. ABSTRACT OBJECTIVES: Benign essential blepharospasm (BEB) is a focal dystonia characterized by involuntary contractions of the orbicularis oculi and periocular muscles. We aimed to investigate the effects of muscle receptor levels on the etiopathogenesis of blepharospasm by evaluating the orbicularis oculi estrogen receptor (ER) and […]
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
Int J Mol Sci. 2023 Jul 13;24(14):11429. doi: 10.3390/ijms241411429. ABSTRACT Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study […]
Rapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection
J Mol Diagn. 2023 Aug;25(8):540-554. doi: 10.1016/j.jmoldx.2023.04.006. ABSTRACT Leber hereditary optic neuropathy (LHON) is the most common maternally inherited mitochondrial disease, with >90% of cases harboring one of three point variants (m.3460G>A, m.11778G>A, and m.14484T>C). Rapid and sensitive diagnosis of LHON variants is urgently needed for early diagnosis and timely treatment after onset, which is […]
Cellular localization of FOXO3 determines its role in cataractogenesis
Am J Pathol. 2023 Jul 28:S0002-9440(23)00269-9. doi: 10.1016/j.ajpath.2023.06.016. Online ahead of print. ABSTRACT The transcription factor FOXO3 is a core regulator of cellular homeostasis, stress response, and longevity. The cellular localization of FOXO3 is closely related to its function. Here, we explored the role of FOXO3 in cataract formation. FOXO3 showed nuclear translocation in lens […]
Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy
Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):32. doi: 10.1167/iovs.64.10.32. ABSTRACT PURPOSE: The extreme variation in expressivity of autosomal dominant optic atrophy (ADOA) is unexplained. It is present from early childhood, why there is reason to search for pre- and perinatal risk factors for poor vision in ADOA. The process of ganglion cell pruning in the […]