World glaucoma week is held every year in March to raise awareness of “glaucoma” disease in society. This theme aims to raise awareness about the silent vision thief through early diagnosis.
Glaucoma is a slowly progressive degenerative optic neuropathy characterized by loss of retinal ganglion cells associated with morphological changes in the optic nerve head, retinal nerve fiber layer (RNFL), and ganglion cell-inner plexiform layer complex (Kim et al., 2011). Glaucoma is the leading cause of visual impairment, accounting for an estimated 3 million cases of blindness and 4 million cases of moderate to severe visual impairment worldwide (Flaxman et al., 2017). Glaucoma may present as early-onset disease (before age 40) inherited as autosomal dominant or recessive traits, and adult-onset forms (developing after age 40) inherited as complex traits (Allen et al., 2015). In general, Despite the rareness of mutations in genes that cause early-onset glaucoma forms (MYOC, OPTN, TBK1, FOXC1, PITX2, PAX6, CYP1B1, LTBP1), their effect is high. (TMCO1, SIX6, CAV1/CAV2, ABCA1, AFAP1, FNDC3B, GAS7, PLEKHA7, GMDS, PMM2, TGFBR3, COL11A1, 8q22) variants are milder and more common (Pakula, 2019). About 300 glaucoma-related genes have been identified in the Human Phenotype Ontology (HPO) database.
There are both medical and surgical treatments for the disease. However, if left untreated, the disease can cause irreversible vision loss. It has been observed that the main cause of vision loss is late examination (Chang et al., 2009). Early diagnosis of glaucoma is essential to control the disease, stop its progression and prevent vision loss (Iwase et al., 2007). Genetic and genomic studies can identify individuals at risk before completely losing sight.
References:
Allen, K. F., Gaier, E. D., Wiggs, J. L. 2015. “Genetics of primary inherited disorders of the optic nerve: Clinical applications”. Cold Spring Harbor Perspectives in Medicine, 5(7), 1–10.
Chang, R. T., Knight, O. J., Feuer, W. J., Budenz, D. L. 2009. “Sensitivity and Specificity of Time-Domain versus Spectral-Domain Optical Coherence Tomography in Diagnosing Early to Moderate Glaucoma”. Ophthalmology, 116(12), 2294–2299.
Flaxman, S. R., Bourne, R. R. A., Resnikoff, S., Ackland, P., Braithwaite, T., Cicinelli, M. V., … Zheng, Y. 2017. “Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis”. The Lancet Global Health, 5(12), e1221–e1234.
Iwase, A., Tomidokoro, A., Araie, M., Shirato, S., Shimizu, H., Kitazawa, Y. 2007. “Performance of Frequency-Doubling Technology Perimetry in a Population-Based Prevalence Survey of Glaucoma. The Tajimi Study”. Ophthalmology, 114(1), 27–32.
Kim, C. S., Seong, G. J., Lee, N. H., Song, K. C. 2011. “Prevalence of primary open-angle Glaucoma in central South Korea: The Namil study”. Ophthalmology, 118(6), 1024–1030.
Pakula, A. 2019. “乳鼠心肌提取 HHS Public Access”. Methods Molecular Biology, 176(5), 139–148.