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Frontiers in Genetics 2024To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome.
PURPOSE
To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome.
METHODS
We retrospectively reviewed 46 singleton pregnancies with anomalies in the urinary system who underwent amniocentesis from Feb 2022 to October 2023 in the Prenatal Diagnosis Center of Lianyungang Maternal and Child Health Hospital. These fetuses were subjected to chromosomal microarray analysis (CMA) and/or trio whole-exome sequencing (Trio-WES). We specifically evaluated these cases' prenatal renal ultrasound findings and clinical characteristics of the affected parents.
RESULTS
Three fetuses were diagnosed as 17q12 microdeletions, and the detection rate was 6.5% in fetuses with anomalies in the urinary system (3/46). The heterogeneous deletions range from 1.494 to 1.66 Mb encompassing the complete hepatocyte nuclear factor 1 homeobox B () gene. Fetuses with 17q12 deletion exhibited varied renal phenotypes. Moreover, the clinical phenotypes of the affected parents differed greatly in the two cases (case 2 and case 3) in which the deletion was inherited. For case 3, the mother manifested classic symptoms of 17q12 deletion syndrome as well as unreported characteristics, such as very high myopia.
CONCLUSION
Our findings demonstrate the necessity and significance of offering prenatal genetic testing when various renal anomalies are detected. In addition, our study broadens the phenotypic spectrum of 17q12 deletions. Most importantly, our findings may allow timely supportive genetic counseling and guidance for pregnancy in affected families, e.g., with the help of preimplantation genetic testing (PGT).
PubMed: 38957807
DOI: 10.3389/fgene.2024.1401315 -
Ophthalmic Genetics Jul 2024To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous pathogenic variant. Atypically, this...
PURPOSE
To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous pathogenic variant. Atypically, this was from a paternal uniparental isodisomy (UPiD) of chromosome 2.
CLINICAL CASE
Four-year-old boy with several months history of holding items close to his face was found to have reduced visual acuity 6/30 in both eyes, bilateral vitreous syneresis, foveal hypoplasia and bilateral high myopia (-8.50D). A skeletal survey showed spondylo-epi-metaphyseal dysplasia. Whole-exome sequencing (WES) revealed a homozygous variant c.1448_1449del, p.(Thr483Argfs*13), inherited through paternal UPiD of chromosome 2.
CONCLUSION
To our knowledge, this is the first reported case of -associated eoHM, foveal hypoplasia and mild skeletal dysplasia due to the rare phenomenon of paternal UPiD of chromosome 2. This case further delineates the phenotype associated with pathogenic variants and supports truncating pathogenic variants being associated with a phenotypic spectrum; from isolated eoHM through to a Stickler syndrome-like phenotype.
PubMed: 38957076
DOI: 10.1080/13816810.2024.2369273 -
Critical Reviews in Clinical Laboratory... Jul 2024RNA methylation is a widespread regulatory mechanism that controls gene expression in physiological processes. In recent years, the mechanisms and functions of RNA... (Review)
Review
RNA methylation is a widespread regulatory mechanism that controls gene expression in physiological processes. In recent years, the mechanisms and functions of RNA methylation under diseased conditions have been increasingly unveiled by RNA sequencing technologies with large scale and high resolution. In this review, the fundamental concept of RNA methylation is introduced, and the common types of transcript methylation and their machineries are described. Then, the regulatory roles of RNA methylation, particularly N6-methyladenosine and 5-methylcytosine, in the vascular lesions of ocular and cardiopulmonary diseases are discussed and compared. The ocular diseases include corneal neovascularization, retinopathy of prematurity, diabetic retinopathy, and pathologic myopia; whereas the cardiopulmonary ailments involve atherosclerosis and pulmonary hypertension. This review hopes to shed light on the common regulatory mechanisms underlying the vascular lesions in these ocular and cardiopulmonary diseases, which may be conducive to developing therapeutic strategies in clinical practice.
PubMed: 38957015
DOI: 10.1080/10408363.2024.2370267 -
Journal of Eating Disorders Jul 2024Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However,...
BACKGROUND
Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However, patients with ARFID can present with micronutrient deficiencies without weight loss. In patients with ARFID, clinicians should be vigilant for micronutrient deficiencies and their presentations.
CASE PRESENTATION
We report a unique case of ARFID in a twelve-year-old girl, who developed micronutrient deficiencies and presented with acute visual loss with a preceding history of impaired night vision. Ophthalmic examination revealed xerophthalmia and bilateral optic neuropathy. Investigations showed severe Vitamin A and folate deficiencies which accounted for her clinical findings. In addition, she was also found to have low Vitamin B12, copper, and Vitamin D levels. She had a history of selective eating from a young age with a diet consisting largely of carbohydrates, with no regular intake of meat, dairy, fruit and vegetables. This was not driven by weight or body image concerns. The patient's symptoms improved significantly with appropriate vitamin replacement and continued multidisciplinary care.
CONCLUSIONS
This report describes a patient with ARFID presenting with visual complaints. In this case, the selective eating behaviours resulted in xeropthalmia and optic neuropathy. Micronutrient deficiencies are uncommon in developed countries. When these deficiencies are suspected, eating disorders, such as ARFID, should be considered. Similarly, clinicians caring for patients with restrictive eating disorders including ARFID should be familiar with the clinical presentations of various micronutrient deficiencies and consider evaluation and treatment for micronutrient deficiencies when clinically indicated.
PubMed: 38956602
DOI: 10.1186/s40337-024-01042-8 -
Scientific Reports Jul 2024With the increase in the dependency on digital devices, the incidence of myopia, a precursor of various ocular diseases, has risen significantly. Because myopia and...
With the increase in the dependency on digital devices, the incidence of myopia, a precursor of various ocular diseases, has risen significantly. Because myopia and eyeball volume are related, myopia progression can be monitored through eyeball volume estimation. However, existing methods are limited because the eyeball shape is disregarded during estimation. We propose an automated eyeball volume estimation method from computed tomography images that incorporates prior knowledge of the actual eyeball shape. This study involves data preprocessing, image segmentation, and volume estimation steps, which include the truncated cone formula and integral equation. We obtained eyeball image masks using U-Net, HFCN, DeepLab v3 +, SegNet, and HardNet-MSEG. Data from 200 subjects were used for volume estimation, and manually extracted eyeball volumes were used for validation. U-Net outperformed among the segmentation models, and the proposed volume estimation method outperformed comparative methods on all evaluation metrics, with a correlation coefficient of 0.819, mean absolute error of 0.640, and mean squared error of 0.554. The proposed method surpasses existing methods, provides an accurate eyeball volume estimation for monitoring the progression of myopia, and could potentially aid in the diagnosis of ocular diseases. It could be extended to volume estimation of other ocular structures.
Topics: Humans; Tomography, X-Ray Computed; Neural Networks, Computer; Eye; Myopia; Female; Male; Adult; Image Processing, Computer-Assisted; Middle Aged; Young Adult
PubMed: 38956139
DOI: 10.1038/s41598-024-64913-9 -
[Zhonghua Yan Ke Za Zhi] Chinese... Jul 2024To investigate the characteristics of posterior segment lesions in Marfan syndrome (MFS) patients and their relationship with anterior segment biometric parameters and...
To investigate the characteristics of posterior segment lesions in Marfan syndrome (MFS) patients and their relationship with anterior segment biometric parameters and FBN1 genotype. A cross-sectional study was conducted. A total of 121 MFS patients, 76 males and 45 females, with an average age of (11.72±11.66) years, who visited the Department of Ophthalmology, Eye & ENT Hospital of Fudan University from January 2013 to March 2023 were included. The presence of posterior scleral staphyloma was observed using B-mode ultrasound, and macular lesions were identified and classified using the atrophy-traction-neovascularization system based on ultra-widefield fundus images, color fundus images, and optical coherence tomography scans. Anterior segment biometric parameters, including axial length of the eye, average corneal curvature, corneal astigmatism, horizontal corneal diameter, anterior chamber depth, and lens thickness, were collected, and the direction and extent of lens dislocation were observed. Molecular genetic analysis of FBN1 gene mutations in patients was performed using next-generation sequencing based on a panel of ocular genetic diseases, and the impact of the genotype and anterior segment biometric parameters on the posterior segment manifestations was analyzed. Sixty patients exhibited posterior segment lesions, including retinal detachment (4 cases, 3.31%), macular lesions (47 cases, 38.84%), and posterior scleral staphyloma (54 cases, 44.63%). There was statistically significant difference in axial length of the eye between patients with and without posterior scleral staphyloma [23.09 (22.24, 24.43) and 27.04 (25.44, 28.88) mm], between patients with and without macular lesions [23.16 (22.24, 24.61) and 27.04 (25.74, 28.78) mm], and between patients with and without atrophic macular lesions [23.16 (22.24, 24.61) and 27.04 (25.74, 28.79) mm] (all <0.001). There was statistically significant difference in anterior chamber depth between patients with and without macular lesions [3.11 (2.75, 3.30) and 3.34 (3.09, 3.60) mm] (<0.05). There was also statistically significant difference in corneal astigmatism between patients with and without posterior scleral staphyloma [2.15 (1.20, 2.93) and 1.40 (1.00, 2.20) diopters] (<0.05). The location and region of the FBN1 gene mutation not only showed statistically significant difference from the positive rates of posterior scleral staphyloma and macular lesions (all <0.05), but also influenced the occurrence of atrophic macular lesions (both <0.05). Patients with FBN1 mutations located in the transforming growth factor β regulatory sequence had the highest proportion of posterior scleral staphyloma and macular lesions (both 10/11). Posterior scleral staphyloma and macular lesions have a relatively high incidence in MFS patients and tend to progress to more severe grades. The age, axial length of the eye, anterior chamber depth, corneal astigmatism, and location and region of the FBN1 gene mutation are factors affecting the posterior segment lesions in MFS patients.
Topics: Humans; Male; Female; Fibrillin-1; Cross-Sectional Studies; Marfan Syndrome; Genotype; Child; Adolescent; Anterior Eye Segment; Posterior Eye Segment; Mutation; Biometry; Young Adult; Macular Degeneration; Adipokines
PubMed: 38955762
DOI: 10.3760/cma.j.cn112142-20230829-00065 -
[Zhonghua Yan Ke Za Zhi] Chinese... Jul 2024To explore the characteristics of refractive parameters and retinal and choroidal blood flow in dominant and non-dominant eyes. A cross-sectional study. Students who...
To explore the characteristics of refractive parameters and retinal and choroidal blood flow in dominant and non-dominant eyes. A cross-sectional study. Students who were 18 to 32 years old and had emmetropia or myopia but no systemic diseases were recruited from universities in Wuhu, Anhui Province from April 2019 to August 2023. They were divided into 4 groups based on the difference in spherical equivalent between two eyes:<0.50 D (group A), 0.50 to 1.74 D (group B), 1.75 to 2.49 D (group C), and≥2.50 D (group D). The card hole method was used to determine the dominant eye. The refractive parameters of both eyes were recorded, including spherical equivalent, myopia degree, astigmatism degree, axial length, and corneal curvature difference (K2-K1). Optical coherence tomography angiography was performed to measure the blood flow density of the superficial retinal capillaries, deep retinal capillaries (DVC), avascular layer (AC), entire retina, choroidal capillaries, and choroidal vessels, as well as the retina and choroid as a whole. Statistical analysis was conducted using the paired sample -test, chi square test, and variance analysis. A total of 78 eligible subjects, aged (24.50±2.36) years old, 28 males and 50 females, were included. Fifty subjects had the right eye and 28 had the left eye as the dominant eye. Forty-two subjects had high myopia in the dominant eye, and 30 had high myopia in the non-dominant eye. There were statistically significant differences (all <0.05) in the spherical equivalent [(-4.588±2.534) D . (-4.058±2.453) D], myopic spherical power [(-4.253±2.504) D . (-3.779±2.425) D], and axial length [(25.531±1.212) mm . (25.256±1.238) mm] between dominant and non-dominant eyes among all subjects, as well as in the astigmatism degree of groups A and C, spherical power of groups B to D, and spherical power and axial length of groups C and D. There were also statistically significant differences (all <0.05) in the blood flow density of the DVC [(0.291±0.130) . (0.257±0.148)], AC [(0.347±0.118) . (0.326±0.126)], and overall retina and choroid [(0.385±0.102) . (0.349±0.084)] between dominant and non-dominant eyes among all subjects, as well as in the blood flow density of the superficial retinal capillaries, DVC, AC, choroidal capillaries, and overall retina and choroid of groups C and D, density of the choroidal vessels of group C, and density of the entire retina of group D. In young individuals with emmetropia or near vision, the degree of myopia in dominant eyes is higher than that in non-dominant eyes. When the difference in the spherical equivalent between two eyes is ≥1.75 D, the blood flow density of the retina and choroid in the dominant eye is greater than that in the non-dominant eye.
Topics: Humans; Male; Female; Cross-Sectional Studies; Adult; Young Adult; Refraction, Ocular; Myopia; Choroid; Adolescent; Retina; Retinal Vessels; Astigmatism; Regional Blood Flow
PubMed: 38955761
DOI: 10.3760/cma.j.cn112142-20240205-00066 -
[Influence of implantable Collamer lens implantation on choroidal thickness and blood flow density].[Zhonghua Yan Ke Za Zhi] Chinese... Jul 2024To observe the impact of implantable Collamer lens (ICL) implantation surgery on choroidal thickness and blood flow density in myopic patients. This was a prospective...
To observe the impact of implantable Collamer lens (ICL) implantation surgery on choroidal thickness and blood flow density in myopic patients. This was a prospective cohort study. Patients undergoing ICL surgery at Qingdao University Affiliated Hospital between June 2021 and May 2023 were consecutively enrolled. Patients were categorized into high myopia (HM) and super high myopia (SHM) groups based on whether their spherical equivalence power exceeded 10.00 D. Comprehensive ophthalmic examinations, including optical coherence tomography, optical coherence tomography angiography, visual acuity assessment, intraocular pressure measurement, and optometry, were performed preoperatively and at 1 week, 1 month, and 3 months postoperatively. A total of 42 patients (84 eyes), with an average age of (25.27±3.18) years, comprising 11 males and 31 females, were enrolled in the study. Among them, 20 patients belonged to the HM group, while 22 patients were in the SHM group. Both choroidal thickness and blood flow density exhibited significant increases at postoperative 1 week and 1 month compared to preoperative levels (<0.05), but returned to baseline levels by postoperative 3 months. Specifically, the subfoveal choroidal thickness increased from (169.49±61.57) μm preoperatively to (180.16±66.61) μm at 1 week, (186.69±63.32) μm at 1 month, and then reverted to (169.58±60.82) μm at 3 months. The central choroidal blood flow density showed changes from 60.03%±1.60% preoperatively to 61.04%±1.17% at 1 week, 60.42%±1.81% at 1 month, and 60.22%±1.57% at 3 months. Furthermore, the HM group exhibited more pronounced changes in both choroidal thickness and blood flow density across all time points compared to the SHM group. Significant differences were observed in choroidal thickness changes at various areas at 1 month, while changes in blood flow density in specific areas were significant. However, no significant differences were noted at 3 months postoperatively. Correlation analysis revealed a negative correlation of changes in subfoveal choroidal thickness and central choroidal blood flow density postoperatively at 1 week and 3 months with preoperative choroidal blood flow density. Notably, no correlation was found between preoperative choroidal thickness and postoperative changes. In the early period following ICL implantation, the increase in choroidal thickness and blood flow density may be more pronounced in HM compared to SHM, but the two parameters can return to baseline levels by 3 months. ICL implantation transiently affects the fundus microenvironment in myopic patients, with implications of preoperative choroidal blood flow.
Topics: Humans; Choroid; Female; Male; Prospective Studies; Adult; Myopia; Lens Implantation, Intraocular; Phakic Intraocular Lenses; Young Adult
PubMed: 38955760
DOI: 10.3760/cma.j.cn112142-20230920-00107 -
The British Journal of Ophthalmology Jul 2024To investigate the association of floor area ratio (FAR), an indicator of built environments, and myopia onset.
AIM
To investigate the association of floor area ratio (FAR), an indicator of built environments, and myopia onset.
METHODS
This prospective cohort study recruited 136 753 children aged 6-10 years from 108 schools in Shenzhen, China at baseline (2016-2017). Refractive power was measured with non-cycloplegic autorefraction over a 2-year follow-up period. FAR was objectively evaluated using geographical information system technology. Mixed-effects logistic regression models were constructed to examine the association of FAR with a 2-year cumulative incidence of myopia among individuals without baseline myopia; multiple linear regression model, with a 2-year cumulative incidence rate of myopia at each school.
RESULTS
Of 101 624 non-myopic children (56.3% boys; mean (SE) age, 7.657±1.182 years) included in the study, 26 391 (26.0%) of them developed myopia after 2 years. In the individual-level analysis adjusting for demographic, socioeconomic and greenness factors, an IQR in FAR was associated with a decreased risk of 2-year myopia incidence (OR 0.898, 95% CI 0.866 to 0.932, p<0.001). Similar findings were observed in the analysis additionally adjusted for genetic and behavioural factors (OR 0.821, 95% CI 0.766 to 0.880, p<0.001). In the school-level, an IQR increase in FAR was found to be associated with a 2.0% reduction in the 2-year incidence rate of myopia (95% CI 1.3% to 2.6%, p<0.001).
CONCLUSIONS
Exposure to higher FAR was associated with a decreased myopia incidence, providing insights into myopia prevention through school built environments in China.
PubMed: 38955480
DOI: 10.1136/bjo-2024-325448 -
Photodiagnosis and Photodynamic Therapy Jun 2024To observe the morphological characteristics of posterior scleral staphyloma (PSS) with or without macular retinoschisis (MRS) using optical coherence tomography (OCT)....
OBJECTIVE
To observe the morphological characteristics of posterior scleral staphyloma (PSS) with or without macular retinoschisis (MRS) using optical coherence tomography (OCT). Additionally, the incidence and severity of other pathologic myopic maculopathy associated with posterior scleral staphyloma was also evaluated.
METHODS
General information and OCT imaging data from 440 patients with posterior scleral staphyloma (PSS) and the PSS curvature > 20×10 μm were collected. These patients visited the Department of Ophthalmology at the First Affiliated Hospital of Harbin Medical University from January 2013 to June 2021. The obtained OCT images of PSS were analyzed using the Image J software to measure the curvature along the Bruch's membrane. The measured curvature was divided into four levels using the quartile method. The classification of macular retinoschisis (MRS) was based on the anatomical structure of the retina and the location of macular retinoschisis. Patients with PSS accompanied by MRS were assigned to the MRS group, while PSS patients without MRS were assigned to the non-MRS group. Additionally, typical OCT changes in other pathologic myopic maculopathy diseases, such as myopic choroidal neovascularization (mCNV), myopic traction maculopathy (MTM), and myopic foveoschisis (MF), were recorded and evaluated.
RESULTS
A total of 615 eyes (328 right eyes, 287 left eyes) from 440 patients (80 males and 360 females) were recruited in this study. The MRS group consisted of 159 patients (36.1%) with 190 eyes (30.9%), while the non-MRS group consisted of 281 patients (63.9%) with 425 eyes (69.1%). Both groups had a significantly higher proportion of female patients compared to male patients, and the right eye was more commonly affected than the left eye. In the MRS group, the prevalence of MRS increased progressively with the severity of PSS. Among the common posterior pole diseases, epiretinal membrane had the highest prevalence (33.2%), while lamellar macular hole had the lowest prevalence (5.3%). In the non-MRS group, the proportion of PSS in each group decreased progressively (except for an equal prevalence in the third and fourth levels) with increasing severity of PSS. Among the common posterior pole diseases, choroidal neovascularization had the highest prevalence (41.4%), while lamellar macular hole had the lowest prevalence (6.5%). When comparing the two groups, there were no significant differences in age, gender, and eye distribution. The MRS group had a higher prevalence of macular schisis, retinal detachment, and dome-shaped macula (17.9%, 14.2%, 14.8%) compared to the non-MRS group (11.3%, 9.2%, 9.6%). The non-MRS group had a significantly higher prevalence of choroidal neovascularization (41.4%) compared to the MRS group (12.6%), while there were no significant differences in the prevalence of epiretinal membrane and lamellar macular hole between the two groups.
CONCLUSION
The prevalence of MRS increased progressively with the severity of PSS, and the MRS occurrence was positively correlated with PSS, which indicated that PSS may lead to MRS, while the proportion of PSS in each group decreases gradually with the severity of PSS in the non-MRS group decreased progressively (except for an equal prevalence in the third and fourth levels). In the MRS group, outer macular retinoschisiss were most relevant to posterior scleral staphyloma, and the prevalence of macular holes and retinal detachments was higher in the MRS group compared to the non-MRS group, indicating that MRS may further turn into complications such as macular holes and retinal detachments, which can significantly affect vision or lead to blindness. The prevalence of choroidal neovascularization (CNV) was significantly higher in the non-MRS group compared to the MRS group, suggesting that PSS with lower severity is more prone to develop into CNV. Dome-shaped macula (DSM) seems to play a protective role in the development of pathologic myopia, and abnormal changes in posterior scleral staphyloma curvature may be an important factor affecting the development and shape of DSM.
PubMed: 38955256
DOI: 10.1016/j.pdpdt.2024.104258