Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Importance:Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives:To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants:A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures:Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures:Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data. Results:A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-β A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T>C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P < .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry. Conclusions and Relevance:In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies

X-linked juvenile retinoschisis: A case report

X-linked juvenile retinoschisis is a hereditary macular dystrophy that is transmitted in the X-linked recessive mode. Clinical signs include a macular star with or without peripheral retinoschisis responsible for decreased visual acuity. This study dealt with a 12-year-old boy who came in for a consultation for progressive decline in visual acuity. His distance visual acuity without correction was scored at 5/100; the right eye (RE) improved to 10/100 after the correction of a myopic astigmatism; and the unimproved left eye was scored at 20/100. The eye fundus showed perimacular radial lines without increased separation for the right eye with some microcysts and a macular hole on the left. An examination of the retinal periphery of both the eyes found inferotemporal retinal splitting. The electrophysiological assessment showed a major dysfunction on the electroretinogram.Keywords: Degeneration, macula, retinoschisis, sta

Effect Of Trabeculectomy On Ocular Biometry And Refractive Errors In Pediatric Glaucoma

Background: Pediatric glaucoma triggers refractive errors by modifying the biometry of the eye. This study was conducted with the objective of estimating the short-term biometric and refractive changes prior to and post trabeculectomy in pediatric glaucoma. Material and Methods: A 12-month, descriptive, cross-sectional study was carried out from January to December 2019, using patients operated on for pediatric glaucoma. Pre- and post-operative biometric and refraction measurements were noted. Visual acuity, axial length, corneal diameter and refraction were obtained. All ethical requirements (anonymity, free, informed, and continuous consent) were satisfied. Data analysis was done using SPSS 20.0. Results: In the present study, 47 eyes of 27 patients were surgically operated upon, from January 2019 to December 2019 at CHU-IOTA. The predominant sex was male (17 patients) at 63%, giving a sex ratio (M / F) of 1.7. The mean age was 5.04 ± 4.24. Preoperatively, the mean corneal diameter, and D90 were respectively 13.83 ± 1.51 and 12.55 ± 0.99. Preoperatively, the mean axial length, and D90, were 23.87 ± 1.29 and 22.28 ± 1.07, respectively. Preoperatively and at three month, the mean myopia (n = 36), were respectively -3.13 ± 1.83 and -1.59 ± 0.97. The mean preoperative astigmatism (n = 47) and D90 were respectively, -1.59 ± 0.77 and -1.23 ± 0.57. A statistically significant relationship (p <0.05) was found to exist between the preoperative and postoperative data of the axial length, corneal diameter, and refractive errors. Conclusions: Trabeculectomy significantly exerts a short-term positive impact on the biometrics and refraction by modifying the initial measurements and diopters.&nbsp

The prevention and management of postoperative trachomatous trichiasis: A systematic review

Among ocular infections, trachoma is the main cause of blindness. Repeated conjunctival Chlamydia trachomatis infections lead to trichiasis, corneal opacification, and visual impairment. Surgery is often needed to relieve discomfort and preserve vision; however, a high post-operative trachomatous trichiasis (PTT) rate has been observed in various settings. We wanted to know why, whether PTT rates could be reduced, and how to manage the PTT that occurs. We performed a search of the literature. Of 217 papers screened, 59 studies were identified for inclusion as potentially relevant, the majority having been excluded for not directly concerning PTT in humans. Preventing PTT is a major challenge. Only one published trial, the STAR trial in Ethiopia, has reported a cumulative PTT rate &lt;10% one year after surgery. The literature on the management of PTT is sparse. Though no PTT management guidelines are available, high-quality surgery with a low rate of unfavorable outcomes for PTT patients is likely to require enhanced surgical training of a smaller group of highly skilled surgeons. Based on the surgical complexity and the authors’ own experience, the pathway for patients suffering from PTT should be studied furher for improvement.</p

Atrophie gyrée de la rétine et de la choroïde : à propos d’un cas

L’atrophie gyrée est une anomalie métabolique rare à transmission autosomique récessive, liée à un déficit en ornithine aminotransférase. Elle affecte préférentiellement la rétine et la choroïde. Nous présentons les caractéristiques clinique et angiographique d’une atrophie gyrée chez une adolescente de 13 ans, venu en consultation pour trouble visuelle crépusculaire. A l’examen clinique, son acuité visuelle sans correction était limitée à 1/20 aux deux yeux qui s’améliore à 1/10 après correction d’un astigmatisme d’une dioptrie et d’une myopie de trois dioptries. Au fond d’œil nous avons relevé un aspect typique « en guirlande circonférentielle » fait de vastes plages atrophiques, confluentes, des mottes pigmentées. A l’angiographie à la fluorescéine, on notait des plages diffuses hypofluorescences correspondant à des zones d’atrophie de l’épithélium pigmentaire et une visibilité anormale des vaisseaux choroïdiens. Ces zones d’atrophies étaient bordées d’hyperfluorescence à bord festonné. Au temps apparaissait une diffusion centrale correspondant à un œdème de la macula. La patiente a été mise sous régime hypoarginique associé à une supplémentation en vitamine B6. Après 6 mois de surveillance, nous avons noté un gain d’une ligne d’acuité visuelle, et une baisse du niveau plasmatique d’ornithine

Association of genetic variants with primary open-angle glaucoma among individuals with african ancestry

Are there differences in genetic risk factors for primary open-angle glaucoma based on ancestry? FindingsIn this multistage, case-control, genome-wide association study that included 26295 participants, the amyloid-beta A4 precursor protein-binding family B member 2 (APBB2) locus was significantly associated with primary open-angle glaucoma among individuals of African ancestry (odds ratio, 1.19 per copy of the risk allele for single-nucleotide polymorphism rs59892895T>C), but not of European or Asian ancestry. MeaningThis study identified a single-nucleotide polymorphism that demonstrated differential association with primary open-angle glaucoma by ancestry. ImportancePrimary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. ObjectivesTo perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and ParticipantsA 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. ExposuresGenetic variants associated with primary open-angle glaucoma. Main Outcomes and MeasuresPresence of primary open-angle glaucoma. Genome-wide significance was defined as PC) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P=2x10(-8)). The association was validated in an analysis of an additional 6937 affected individuals and 14917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P<.001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P=4x10(-13)). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry. Conclusions and RelevanceIn this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies. This genome-wide association study (GWAS) investigates genetic loci associated with primary open-angle glaucoma in individuals in Africa and in the United States with African ancestry.3221716821691FAPESP – Fundação de Amparo à Pesquisa Do Estado De São Paulo10/18353-9; 02/11575-

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

ImportancePrimary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders.ObjectivesTo perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma.Design, settings, and participantsA 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma.ExposuresGenetic variants associated with primary open-angle glaucoma.Main outcomes and measuresPresence of primary open-angle glaucoma. Genome-wide significance was defined as P &lt; 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data.ResultsA total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-β A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T&gt;C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P &lt; .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry.Conclusions and relevanceIn this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies