scholarly journals Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia

2021 ◽  
Vol 9 ◽  
Author(s):  
Yi Jiang ◽  
Jiamin Ouyang ◽  
Xueqing Li ◽  
Yingwei Wang ◽  
Lin Zhou ◽  
...  
Keyword(s):  
High Myopia ◽  
Specific Form ◽  
Pathologic Myopia ◽  
Large Dataset ◽  
Chinese Families ◽  
Ocular Development ◽  
Pathogenic Variants ◽  
Bidirectional Regulation ◽  
Vitreous Opacity ◽  
Novel Association

BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe BMP4 truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, BMP4 variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple in silico tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in BMP4 were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients with a specific form of pathologic myopia, characterized by significantly extended axial length, posterior staphyloma, macula patchy, chorioretinal atrophy, myopic optic neuropathy or glaucoma, vitreous opacity, and unique peripheral snow-grain retinopathy. The extreme rarity of the truncations in BMP4 (classified as intolerant in the gnomAD database, pLI = 0.96), the exclusive presence of these variants in the four families with pathologic myopia, variants fully co-segregated with the same specific phenotypes in eight patients from the four families, and the association of the pathogenicity of truncations with syndromic microphthalmia in previous studies, all support a novel association of BMP4 truncations with a specific form of pathologic myopia. The data presented in this study demonstrated that heterozygous BMP4 truncations contributed to a novel phenotype: pathologic myopia rather than microphthalmia. Mutations in the same gene resulting in both high myopia and microphthalmia have been observed for a few other genes like FZD5 and PAX6, suggesting bidirectional roles of these genes in early ocular development. Further studies are expected to elucidate the molecular mechanism of the bidirectional regulation.

scholarly journals Investigation of Macular Choroidal Thickness and Blood Flow Change by Optical Coherence Tomography Angiography After Posterior Scleral Reinforcement

2021 ◽  
Vol 8 ◽  
Author(s):  
Zheng Zhang ◽  
Yue Qi ◽  
Wenbin Wei ◽  
Zi-Bing Jin ◽  
Wen Wang ◽  
...  
Keyword(s):  
Blood Flow ◽  
Optical Coherence Tomography ◽  
High Myopia ◽  
Choroidal Thickness ◽  
Optical Coherence Tomography Angiography ◽  
Pathologic Myopia ◽  
Optical Coherence ◽  
Short Period ◽  
Posterior Scleral Reinforcement

Purpose: This work aimed to study the effect of posterior scleral reinforcement (PSR) on choroidal thickness (CT) and blood flow.Methods: This study included 25 eyes of 24 patients with high myopia ( ≤ -6.0 dioptres or axial length ≥ 26.0 mm) who underwent PSR surgery. All patients completed the 1-month follow-up visit. Myopic macular degeneration (MMD) was graded according to the International Meta-Analysis for Pathologic Myopia (META-PM) classification based on color fundus photographs. Swept-source optical coherence tomography angiography (SSOCTA) was performed to investigate CT, choroidal perfusion area (CPA), and choriocapillaris perfusion area (CCPA) change following PSR surgery.Results: The distribution of MMD categories was 9 (36.0%) in category 1, 10 (40.0%) in category 2, and 6 (24.0%) in category 3 or 4. MMD severity was strongly correlated with CT (all P < 0.01) and CPA (all P < 0.04). Postoperative CT at each sector increased significantly at 1 week's follow-up, compared to preoperative measures (all P < 0.05). Postoperative CPA at subfoveal, superior, inferior, and nasal sectors also increased significantly 1 week after PSR surgery (all P < 0.05). Moreover, the increased CT, CPA, and CCPA remain after PSR surgery at 1 month's follow-up, but the difference was not statistically significant.Conclusions: We demonstrated that the CT and choroidal blood flow increased significantly in patients with high myopia who underwent PSR surgery in a short period of time. In addition, the CT and CPA were independently associated with MMD. However, whether the transient improvement of the choroidal circulation could prevent long-term progression of high myopia warrants further study in the future.

scholarly journals Morphology and Microcirculation Changes of Optic Nerve Head Between Simple High Myopia and Pathologic Myopia

2021 ◽  
Author(s):  
Wenquan Tang ◽  
Xuanchu Duan ◽  
Junyi Ouyang ◽  
YuLin Luo ◽  
Xilang Wang
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Head ◽  
High Myopia ◽  
Structural Changes ◽  
Pathologic Myopia ◽  
Disease Development ◽  
Pathological Changes ◽  
Choroidal Perfusion ◽  
Morphology Changes

Abstract This study explored morphology and microcirculation changes of optic nerve head (ONH) in simple high myopia(SHM) and pathologic myopia(PM), in order to evaluate and identify ONH changes in the development of PM. We divided 193 right eyes of 193 patients into SHM and PM according to the retinopathy. We found that ONH is one of the earliest pathological changes in myopia, and its morphology changes were also the most obvious. PM is closely linked to the reduction of choroidal perfusion and structural changes of ONH. Microcirculation showed a significant priority changes in myopia. Further research should address whether these fndings are associated with future disease development in highly myopic eyes.

scholarly journals Vitreous Tamponades in Highly Myopic Eyes

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
X. Valldeperas ◽  
J. Lorenzo-Carrero
Keyword(s):  
Physical Properties ◽  
Macular Hole ◽  
High Myopia ◽  
Visual Loss ◽  
Pathologic Myopia ◽  
Myopic Foveoschisis ◽  
Advantages And Disadvantages ◽  
Younger Age

The use of endotamponade agents has gained a major role in the management of macular complications of high myopia. Myopic foveoschisis and macular hole are the main macular complication of pathologic myopia, this growing condition that is a main cause of visual loss, especially in patients at a younger age. We discuss the physical properties and advantages and disadvantages of the main ocular tamponade agents used in the treatment of these diseases.

scholarly journals Mutational Screening for Mitochondrial tRNA Mutations in 150 Children with High Myopia

2021 ◽  
Vol 31 (5) ◽  
Author(s):  
Tian Xia ◽  
Ying Pang ◽  
Huimin Xiong
Keyword(s):  
Mitochondrial Dysfunction ◽  
High Myopia ◽  
Phenotypic Expression ◽  
Active Role ◽  
Unknown Etiology ◽  
Trna Genes ◽  
Mitochondrial Translation ◽  
Mitochondrial Trna ◽  
Pathogenic Variants ◽  
Mutational Screening

Background: Myopia is a very common eye disease with an unknown etiology. Increasing evidence shows that mitochondrial dysfunction plays an active role in the pathogenesis and progression of this disease. Objectives: The purpose of this study was to analyze the relationship between mitochondrial tRNA (mt-tRNA) variants and high myopia (HM). Methods: The entire mt-tRNA genes of 150 children with HM, as well as 100 healthy subjects, were PCR-amplified and sequenced. To assess the pathogenicity, we used the phylogenetic conservation analysis and pathogenicity scoring system. Results: We identified six candidate pathogenic variants: tRNALeu (UUR) T3290C, tRNAIle A4317G, tRNAAla G5591A, tRNASer (UCN) T7501C, tRNAHis T12201C, and tRNAThr G15915A. However, these variants were not identified in controls. Further phylogenetic analysis revealed that these variants occurred at the positions, which were very evolutionarily conserved and may have structural-functional impacts on the tRNAs. Subsequently, these variants may lead to the impairment of mitochondrial translation and aggravated mitochondrial dysfunction, which play an active role in the phenotypic expression of HM. Conclusions: Our results suggested that variants in mt-tRNA genes were the risk factors for HM, which provided valuable information for the early detection and prevention of HM.

scholarly journals Myopia: its historical contexts

2018 ◽  
Vol 102 (8) ◽  
pp. 1021-1027 ◽  
Author(s):  
Paulus T V M de Jong
Keyword(s):  
Intraocular Pressure ◽  
21St Century ◽  
High Myopia ◽  
Extraocular Muscles ◽  
Pathologic Myopia ◽  
Clear Separation ◽  
Posterior Staphyloma ◽  
Elevated Intraocular Pressure ◽  
Near Work

Worldwide, and especially in Asia, myopia is a major vision-threatening disorder. From AD 1600 on, to prevent myopia, authors warned against near work without sufficient pauses. There was an abundance of theories about the causes of myopia, the most common one being the necessity of extra convergence on nearby work with thickened extraocular muscles and elevated intraocular pressure. Ocular tenotomies against myopia were in vogue for a while. Axial lengthening of the eye in myopia was mentioned around 1700, but it took 150 years to become accepted as the most prevalent sign of high myopia. In 1864, a lucid concept of myopia and other ametropias arose through a clear separation between accommodation and refraction. Posterior staphyloma was known around 1800 and its association with myopia became evident some 30 years later. There still seems to be no generally accepted classification of myopia and particularly not of degenerative or pathologic myopia. This review focuses on myopia from 350 BC until the 21st century and on the earliest writings on the histology of eyes with posterior staphyloma. A proposal for myopia classification is given.

Nicolaides–Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion

2021 ◽  
pp. 1-3
Author(s):  
Ross Foley ◽  
Sophie Duignan ◽  
Linda McArdle ◽  
David R. Betts ◽  
Andrew Green ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Short Stature ◽  
Developmental Disorder ◽  
Gene Deletion ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Pathogenic Variants ◽  
Novel Association ◽  
Sparse Hair

Abstract Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.

Does Taurine Preserve Visual Acuity in a Patient with Pathologic Myopia?

2020 ◽  
pp. 1-5
Author(s):  
Lina Ramírez Páez ◽  
◽  
Norma E Ávila Portillo ◽  
Keyword(s):  
Visual Acuity ◽  
Sulfonic Acid ◽  
High Myopia ◽  
Pathologic Myopia ◽  
Choroidal Neovascular Membrane ◽  
Taurine Supplementation ◽  
Pathological Myopia ◽  
Corrected Visual Acuity ◽  
Potential Use ◽  
Retinal Photocoagulation

Taurine, a semi-essential amino sulfonic acid, is present in high amounts in the retina. It has anti-inflammatory, antioxidant, and neuromodulatory properties which have shown to be beneficial for specific neurodegenerative conditions [1]. However, its effects on high myopia or its complications are unknown. We report the case of a 60-year-old woman with pathological myopia, who 7 years ago, presented a best corrected visual acuity (BCVA) of 20/200 right eye (OD) and 20/70 left eye (OS), and was diagnosed with a choroidal neovascular membrane (CNV) OS. She initiated taurine supplementation (1.5 g/ daily for 14 days) and improved to a BCVA of 20/100 OD. She continued taking 500 mg/daily. Subsequent events included 4 injections of Aflibercept OS, cataract surgery in both eyes (AO), and peripheral retinal photocoagulation in AO. This last treatment induced a severe inflammation and loss of visual acuity OS. She was treated with corticosteroids, but after two weeks due to lack of improvement, the taurine dose was increased to 1 g/day. Three weeks after, her BCVA went from counting fingers to 20/60 OS, and her inflammation was controlled. After 7 years of continuous taurine intake, her CNV OS has remained inactive, her BCVA was stable and even improved in the last year from 20/45 OD and 20/80 OS to 20/25 OD and 20/60 OS, respectively. At the same time, her migraines decreased in intensity and frequency. This case report brings a new light towards the potential use of taurine supplementation in high myopia, retinal degeneration, and pathologic myopia.

scholarly journals Posterior Wall Collapse in High Myopia following Cataract Surgery

2018 ◽  
Vol 9 (1) ◽  
pp. 167-171
Author(s):  
Galia A. Deitz ◽  
Adam R. Sweeney ◽  
Hoon C. Jung
Keyword(s):  
Cataract Surgery ◽  
High Myopia ◽  
Posterior Wall ◽  
Pathologic Myopia ◽  
Uncorrected Distance Visual Acuity ◽  
Patient Reported ◽  
History Of ◽  
Pars Plana ◽  
Initial Recovery

Purpose: We report a case of posterior globe collapse of an eye after initial recovery from uncomplicated cataract surgery in a patient with high myopia and discuss the course of management involving recognition and emergent air injection with globe reformation. Case Report: A 64-year-old functionally monocular male with a history of high myopia presented for follow-up after uncomplicated cataract surgery. Uncorrected distance visual acuity (UCDVA) at postoperative day 1 was 20/150 with an intraocular pressure (IOP) of 19 mm Hg. At the week 1 visit, UCDVA had decreased to 20/200 with an IOP at 9 mm Hg. After preliminary exam, the keratome site suture was removed, after which the patient reported vision changes. A dilated fundus exam was performed revealing posterior scleral wall collapse. A clinical diagnosis of hypotony was made and a pars plana injection of 1 mL air was performed. This resulted in immediate subjective improvement of vision. Exam the next day revealed UCDVA 20/50 with pinhole improvement to 20/30 and IOP 15 mm Hg. Conclusion: This case demonstrates postoperative hypotony in a patient with pathologic myopia, following cataract surgery. Pathologically myopic eyes may have greater propensity to collapse in the setting of reduced IOP.

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