Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma

Fan, Wanlin; Wan, Li; Duan, Chaoye; Zhang, Wenbo; Guo, Yongwei; Chen, Fei

doi:10.3892/mmr.2020.11441

Cited by 3 publications

(2 citation statements)

References 33 publications

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“…One suggestion is that myocilin contributes to the maintenance of IOP homeostasis, although it has not been confirmed due to conflicting and contradictory data. While some studies report that myocilin up-regulation is responsible for IOP elevation ( 62 , 63 ), other ones report that neither its overexpression nor its haploinsufficiency is the primary mechanism for glaucoma phenotype. ( 31 , 64 , 65 ).…”

Section: Resultsmentioning

confidence: 99%

Genetics and Glaucoma: the state of the art

Tirendi,

Domenicotti,

Bassi

et al. 2023

Front. Med.

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Glaucoma is the second leading cause of irreversible blindness worldwide. Although genetic background contributes differently to rare early-onset glaucoma (before age 40) or common adult-onset glaucoma, it is now considered an important factor in all major forms of the disease. Genetic and genomic studies, including GWAS, are contributing to identifying novel loci associated with glaucoma or to endophenotypes across ancestries to enrich the knowledge about glaucoma genetic susceptibility. Moreover, new high-throughput functional genomics contributes to defining the relevance of genetic results in the biological pathways and processes involved in glaucoma pathogenesis. Such studies are expected to advance significantly our understanding of glaucoma’s genetic basis and provide new druggable targets to treat glaucoma. This review gives an overview of the role of genetics in the pathogenesis or risk of glaucoma.

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Section: Resultsmentioning

confidence: 99%

Genetics and Glaucoma: the state of the art

Tirendi,

Domenicotti,

Bassi

et al. 2023

Front. Med.

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“… 5 , 6 There are currently 280 identified MYOC mutations, 37.86% of which have been associated with the development of glaucoma. 6 – 8 These mutations are thought to cause aqueous outflow obstruction at the level of the TM. Missense mutations make up 85.9% of glaucoma-related MYOC mutations, most of which arise within the olfactomedin (OLF) domain present on exon 3 of MYOC.…”

Section: Introductionmentioning

confidence: 99%

Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient

et al. 2022

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To our knowledge, this case report describes the first instance of reversal of glaucomatous optic nerve cupping in a young adult with a rare form of juvenile open-angle glaucoma (JOAG) associated with a novel variant of the myocilin gene (MYOC). This 25-year-old woman with severe-stage MYOC-associated JOAG presented with blurry vision and intermittent pain in her left eye. She had a strong family history of glaucoma in multiple first-degree relatives with an identified novel variant of MYOC. Examination revealed intraocular pressures (IOPs) of 10 mmHg OD and 46 mmHg OS, with cup-to-disc ratios of 0.90 and 0.80. The patient experienced substantial reversal of optic disc cupping OS following dramatic IOP reduction with trabeculectomy, and subsequently experienced a return of cupping after an IOP spike 15 months postoperatively. The reversal of cupping did not correspond to any changes in the patient’s visual field. After an initial decrease in retinal nerve fiber layer (RNFL) thickness, RNFL remained stable for over 2 years after trabeculectomy as seen on Optical Coherence Tomography (OCT). This case suggests reversal of cupping can occur well into adulthood in a MYOC-associated JOAG patient, and it demonstrates the potential bidirectionality of this phenomenon. Moreover, it suggests that these structural changes may not correspond to any functional changes in visual fields or RNFL thickness.

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Belamkar

Harris

Oddone

et al. 2022

JCM

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Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by irreversible retinal ganglion cell damage and visual field loss. The global POAG prevalence is estimated to be 3.05%, and near term is expected to significantly rise, especially within aging Asian populations. Primary angle-closure glaucoma disproportionately affects Asians, with up to four times greater prevalence of normal-tension glaucoma reported compared with high-tension glaucoma. Estimates for overall POAG prevalence in Asian populations vary, with Chinese and Indian populations representing the majority of future cases. Structural characteristics associated with glaucoma progression including the optic nerve head, retina, and cornea are distinct in Asians, serving as intermediates between African and European descent populations. Patterns in IOP suggest some similarities between races, with a significant inverse relationship between age and IOP only in Asian populations. Genetic differences have been suggested to play a role in these differences, however, a clear genetic pattern is yet to be established. POAG pathogenesis differs between Asians and other ethnicities, and it may differ within the broad classification of the Asian race. Greater awareness and further research are needed to improve treatment plans and outcomes for the increasingly high prevalence of normal tension glaucoma within aging Asian populations.

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Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma

Cited by 3 publications

References 33 publications

Genetics and Glaucoma: the state of the art

Genetics and Glaucoma: the state of the art

Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient

Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

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