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
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
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population
CONCLUSIONS: Consequently, the T allele and TT genotype in the -3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.PMID:38411150 | DOI:10.1080/13816810.2024.2317279 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 27, 2024 Category: Opthalmology Authors: Ebru Alp Sibel Doguizi Fadime Mutlu Icduygu Egemen Akgun Mehmet Ali Sekeroglu Murat Atabey Ozer Source Type: research
