< em > PRPS1 < /em > -associated retinopathy: a diagnostic odyssey
CONCLUSION: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.PMID:38619019 | DOI:10.1080/13816810.2024.2321871 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2024 Category: Opthalmology Authors: Tariq A Alzahem Abdulwahab AlTheeb Rola Ba-Abbad Source Type: research
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis
CONCLUSIONS: The study found that IL-10 -592C>A, -819T>C, -1082A>G, and IL-6 -572 G>C polymorphisms were linked to glaucoma risk. However, no significant association was observed for IL-6 -174 G>C. These findings imply a possible connection between genetic variations in these genes and glaucoma risk. Further research is crucial to fully understand the underlying mechanisms and their significance in managing and preventing glaucoma.PMID:38602069 | DOI:10.1080/13816810.2024.2336964 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 11, 2024 Category: Opthalmology Authors: Ahmadreza Golshan-Tafti Mohammad Bahrami Reyhaneh Mohsenzadeh-Yazdi Seyed Alireza Dastgheib Maryam Aghasipour Amirmasoud Shiri Kamran Alijanpour Fatemeh Asadian Kazem Aghili Mohammad Manzourolhojeh Hossein Neamatzadeh Source Type: research
Broadening the ocular phenotypic spectrum of ultra-rare < em > BRPF1 < /em > variants: report of two cases
This report describes a novel ocular finding in patients affected by variants in the BRPF1 gene.METHODS: We performed exome sequencing and deep ocular phenotyping in two unrelated patients (P1, P2) with mild intellectual disability, ptosis, and typical facies.RESULTS: Interestingly, P1 had a Chiari Malformation type I and a subclinical optic neuropathy, which could not be explained by variations in other genes. Having detected a peculiar ocular phenotype in P1, we suggested optical coherence tomography (OCT) for P2; such an exam also detected bilateral subclinical optic neuropathy in this case.DISCUSSION: To date, only a f...
Source: Ophthalmic Genetics - April 9, 2024 Category: Opthalmology Authors: Elisa Marziali Samuela Landini Erika Fiorentini Camilla Rocca Lucia Tiberi Rosangela Artuso Laila Zaroili Elia Dirupo Pina Fortunato Sara Bargiacchi Roberto Caputo Giacomo Maria Bacci Source Type: research
Variant in EZR leads to defects in lens development
CONCLUSIONS: The study suggests that ezrin may be involved in the enucleation and differentiation of lens epithelial cells.PMID:38563525 | DOI:10.1080/13816810.2024.2330391 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 2, 2024 Category: Opthalmology Authors: Nan Zhou Mingyan He Guangkai Zhou Qiuyang Fan Yanhua Qi 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
