A novel < em > LTBP2 < /em > gene variant in a Turkish family with juvenile-onset open-angle glaucoma
CONCLUSION: We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.PMID:38557215 | DOI:10.1080/13816810.2024.2331540 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 1, 2024 Category: Opthalmology Authors: Banu Bozkurt Ozkan Ba ğcı Sema Üzüm T ülin Çora Source Type: research
Posterior microphthalmos with retinal involvement related to < em > MFRP < /em > gene: a report of 10 Brazilian patients
CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.PMID:38557281 | DOI:10.1080/13816810.2024.2322650 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 1, 2024 Category: Opthalmology Authors: Rebeca A S Amaral Olivia A Zin Remo T Moraes Fernanda B O Porto Pedro C Carricondo Sergio L G Pimentel Bernardo P Kestelman Sung E S Watanabe Juliana M F Sallum Source Type: research
A novel < em > LTBP2 < /em > gene variant in a Turkish family with juvenile-onset open-angle glaucoma
CONCLUSION: We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.PMID:38557215 | DOI:10.1080/13816810.2024.2331540 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 1, 2024 Category: Opthalmology Authors: Banu Bozkurt Ozkan Ba ğcı Sema Üzüm T ülin Çora Source Type: research
Posterior microphthalmos with retinal involvement related to < em > MFRP < /em > gene: a report of 10 Brazilian patients
CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.PMID:38557281 | DOI:10.1080/13816810.2024.2322650 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 1, 2024 Category: Opthalmology Authors: Rebeca A S Amaral Olivia A Zin Remo T Moraes Fernanda B O Porto Pedro C Carricondo Sergio L G Pimentel Bernardo P Kestelman Sung E S Watanabe Juliana M F Sallum Source Type: research
< em > PAX6 < /em > gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy
CONCLUSIONS: The methylation of PAX6 gene might play a role in the onset and progression of myopia in Chinese adolescents. And this could potentially explore the potential molecular mechanisms of juvenile myopia in the future.PMID:38531548 | DOI:10.1080/13816810.2024.2315152 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 26, 2024 Category: Opthalmology Authors: Danjie Jiang Shujuan Lin Qinghai Gong Jia Hong Jinghui Wang Hua Gao Yanbo Guo Feng Tong Yan Zhang Source Type: research
Macular atrophy and focal choroidal excavation in a patient with < em > JAG1 < /em > - related alagille syndrome
CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.PMID:38526149 | DOI:10.1080/13816810.2024.2303786 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 25, 2024 Category: Opthalmology Authors: Diego Ruiz-Chavolla Tania Barrag án-Arévalo Daniel Cortes-Mu ñoz Jhoana S ánchez-Ruiz Juan Carlos Zenteno Gerardo Ledesma-Gil Source Type: research
Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS
CONCLUSIONS: Genetic variants in AMD-associated immune genes may influence AMD-associated systemic plasma inflammatory biomarker levels in patients with AIDS.PMID:38526161 | DOI:10.1080/13816810.2024.2330380 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 25, 2024 Category: Opthalmology Authors: Efe Sezgin Michael F Schneider Peter W Hunt Gabriele Beck-Engeser Gabriele C Ambayac Douglas A Jabs Source Type: research
