Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis
CONCLUSION: The pyrin variant of the MEFV gene resulting in a subclinical phenotype appears to reduce the incidence of glaucoma, and heterozygous pyrin (MEFV) E148Q allele carriers confer protection against glaucoma. It is important to consider the limitations arising from the relatively small number of studies conducted on this topic.PMID:38482581 | DOI:10.1080/13816810.2024.2324362 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 14, 2024 Category: Opthalmology Authors: Orkun Muhsinoglu Ibrahim Akalin Remzi Karadag Sarenur Yilmaz Huseyin Bayramlar James D Nicholson Source Type: research
Structural and functional characterization of an individual with the M285R < em > KCNV2 < /em > hypomorphic allele
CONCLUSIONS: We provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in KCNV2.PMID:38454848 | DOI:10.1080/13816810.2024.2324046 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 8, 2024 Category: Opthalmology Authors: Thales A C de Guimaraes Francesco Lai Raffaella Colombatti Giovanni Sato Roberta Rizzo Angelos Kalitzeos Michel Michaelides Source Type: research
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes
CONCLUSIONS: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.PMID:38450436 | DOI:10.1080/13816810.2024.2324044 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 7, 2024 Category: Opthalmology Authors: Alexandra Ruiz Guijosa Laura Fern ández Morales Jos é María Martínez de la Casa Julio Escribano Juli án García Feijoo Source Type: research
Novel < em > ATF6 < /em > homozygous variant in a Chinese patient with achromatopsia
CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.PMID:38419580 | DOI:10.1080/13816810.2024.2322643 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Shijing Wu Yinhui Yu Yao Wang Li Zhang Xiaoyun Fang Panpan Ye Jian Ma Source Type: research
Novel heterozygous < em > PRPH2 < /em > variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy
CONCLUSIONS: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.PMID:38419591 | DOI:10.1080/13816810.2024.2321883 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Tugche S Chen Narin Sheri David S Ehmann Matthew D Benson Source Type: research
Novel < em > ATF6 < /em > homozygous variant in a Chinese patient with achromatopsia
CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.PMID:38419580 | DOI:10.1080/13816810.2024.2322643 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Shijing Wu Yinhui Yu Yao Wang Li Zhang Xiaoyun Fang Panpan Ye Jian Ma Source Type: research
Novel heterozygous < em > PRPH2 < /em > variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy
CONCLUSIONS: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.PMID:38419591 | DOI:10.1080/13816810.2024.2321883 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Tugche S Chen Narin Sheri David S Ehmann Matthew D Benson Source Type: research
Novel < em > ATF6 < /em > homozygous variant in a Chinese patient with achromatopsia
CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.PMID:38419580 | DOI:10.1080/13816810.2024.2322643 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Shijing Wu Yinhui Yu Yao Wang Li Zhang Xiaoyun Fang Panpan Ye Jian Ma Source Type: research
Novel heterozygous < em > PRPH2 < /em > variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy
CONCLUSIONS: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.PMID:38419591 | DOI:10.1080/13816810.2024.2321883 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Tugche S Chen Narin Sheri David S Ehmann Matthew D Benson Source Type: research