Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population
CONCLUSIONS: Seven different pathogenic variants in the RS1 gene were identified; with c.422 G> A (p.Arg141His) as the most frequent variant and c.531 T> G as only non-sense mutation. Having EZ or ELM disruption were the significant factors affecting VA.PMID:34865595 | DOI:10.1080/13816810.2021.2010772 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Gokhan Ozan Cetin Ebru Nevin Cetin Tunahan Akyol Hatice Deniz Ilhan Gokhan Pekel Source Type: research

< em > RP1L1 < /em > rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration
This study aimed to determine the association of RP1L1 single nucleotide polymorphism and serum RP1L1 levels with the onset of the early AMD.AIM: The aim of this study was to determine the association of RP1L1 single nucleotide polymorphism with the onset of the early age-related macular degeneration (AMD).METHODS: The study examined 615 subjects: 309 with a diagnosis of the early AMD and 306 healthy controls. Samples of DNA from peripheral blood leukocytes were extracted by the DNA salting-out method. Genotyping was carried out by the real-time polymerase chain reaction. Serum levels of RP1L1 protein were evaluated using ...
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Ginte Daniute Alvita Vilkeviciute Greta Gedvilaite Loresa Kriauciuniene Rasa Liutkeviciene Source Type: research

Association of genetic variants in < em > PDGFRA < /em > with high myopia in the Han population of southwestern China
CONCLUSIONS: Our findings indicated that rs2114039, located in PDGFRA, was significantly associated with HM in the southwest Han Chinese population. Additionally, rs2114039 might influence the function of PDGFRA by regulating the growth of human vision through different pathways. Furthermore, functional research on the role of PDGFRA in myopia pathogenesis should be conducted in the future.PMID:34865611 | DOI:10.1080/13816810.2021.1998550 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Lingxi Jiang Guo Huang Chao Dai Rui Zheng Chunbao Xie Suyang Duan Ling Zhong Xiaoqi Liu Bo Gong Dezhong Yao Zhenglin Yang Yi Shi Source Type: research

< em > TULP1 < /em > related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases
CONCLUSION: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.PMID:34865612 | DOI:10.1080/13816810.2021.2010769 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: H Al-Hindi M Z Chauhan R Sanders H Samarah M DeBenedictis E Traboulsi S H Uwaydat Source Type: research

Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population
CONCLUSIONS: Seven different pathogenic variants in the RS1 gene were identified; with c.422 G> A (p.Arg141His) as the most frequent variant and c.531 T> G as only non-sense mutation. Having EZ or ELM disruption were the significant factors affecting VA.PMID:34865595 | DOI:10.1080/13816810.2021.2010772 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Gokhan Ozan Cetin Ebru Nevin Cetin Tunahan Akyol Hatice Deniz Ilhan Gokhan Pekel Source Type: research

< em > RP1L1 < /em > rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration
This study aimed to determine the association of RP1L1 single nucleotide polymorphism and serum RP1L1 levels with the onset of the early AMD.AIM: The aim of this study was to determine the association of RP1L1 single nucleotide polymorphism with the onset of the early age-related macular degeneration (AMD).METHODS: The study examined 615 subjects: 309 with a diagnosis of the early AMD and 306 healthy controls. Samples of DNA from peripheral blood leukocytes were extracted by the DNA salting-out method. Genotyping was carried out by the real-time polymerase chain reaction. Serum levels of RP1L1 protein were evaluated using ...
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Ginte Daniute Alvita Vilkeviciute Greta Gedvilaite Loresa Kriauciuniene Rasa Liutkeviciene Source Type: research

Association of genetic variants in < em > PDGFRA < /em > with high myopia in the Han population of southwestern China
CONCLUSIONS: Our findings indicated that rs2114039, located in PDGFRA, was significantly associated with HM in the southwest Han Chinese population. Additionally, rs2114039 might influence the function of PDGFRA by regulating the growth of human vision through different pathways. Furthermore, functional research on the role of PDGFRA in myopia pathogenesis should be conducted in the future.PMID:34865611 | DOI:10.1080/13816810.2021.1998550 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Lingxi Jiang Guo Huang Chao Dai Rui Zheng Chunbao Xie Suyang Duan Ling Zhong Xiaoqi Liu Bo Gong Dezhong Yao Zhenglin Yang Yi Shi Source Type: research

< em > TULP1 < /em > related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases
CONCLUSION: Patients with TULP1-related retinal dystrophy can have a distinctive retinopathy with a unique pattern of macular degeneration and periarteriolar vascular pigmentation.PMID:34865612 | DOI:10.1080/13816810.2021.2010769 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: H Al-Hindi M Z Chauhan R Sanders H Samarah M DeBenedictis E Traboulsi S H Uwaydat Source Type: research

Novel < em > CHRDL1 < /em > mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females
CONCLUSIONS: Here, we report an additional XMC family due to a novel mutation in the CHRDL1 gene. Mild anterior segment anomalies were observed in two heterozygous carriers demonstrating for the first time a CHRDL1-linked phenotype in females. A detailed comparison of the clinical and genetic features of this pedigree with those observed in previously published XMC cases is also presented.PMID:34844512 | DOI:10.1080/13816810.2021.2002917 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 30, 2021 Category: Opthalmology Authors: Rocio Arce-Gonzalez Oscar F Chacon-Camacho Alejandro Navas-Perez Mar ía C Gonzalez-Gonzalez Alan Martinez-Aguilar Juan Carlos Zenteno Source Type: research

A novel < em > CEP290 < /em > disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing
CONCLUSIONS: Our report provided a new mutation to the spectrum of CEP290-related diseases. The data suggested that the c.3310-1_3313delGCTTA mutation affects the CEP290 mRNA splicing and the CEP290 protein function. This valuable information is important for future studies on the mRNA splicing of CEP290 and the pathogenesis of CEP290-related diseases.PMID:34809537 | DOI:10.1080/13816810.2021.2004431 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 23, 2021 Category: Opthalmology Authors: Bin-Bin Chen Yi Zhai Ya-Nan Huo Shuo Yang Zhi-Yong Zhang Source Type: research

Absence of significant genetic alterations in the < em > VSX1 < /em > , < em > SOD1 < /em > , < em > TIMP3 < /em > , and < em > LOX < /em > genes in Brazilian patients with Keratoconus
CONCLUSION: There is absence of KC pathogenic related to mutations in the VSX1, SOD1, TIMP3 and LOX genes in the studied patients.PMID:34802378 | DOI:10.1080/13816810.2021.1992785 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 22, 2021 Category: Opthalmology Authors: Alessandro Garcia Lopes Gild ásio Castello de Almeida Marcos Paulo Miola Ronan Marques Teixeira Francielly Camilla Bazilio Laurindo Pires Rodolfo Andrade Miani Luiz Carlos de Mattos Cinara C ássia Brandão Lilian Castiglioni Source Type: research

Identification of a novel de novo variant in < em > OTX2 < /em > in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis
CONCLUSIONS: This report demonstrates the importance of genetic counseling and underscores the efficiency and effectiveness of targeted NGS as a means of detecting variants in inherited eye disorders.PMID:34791963 | DOI:10.1080/13816810.2021.2002915 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 18, 2021 Category: Opthalmology Authors: Maryam Rafati Faezeh Mohamadhashem Koosha Jalilian Fatemeh Hoseininasab Laya Fakhri Azadeh Hoseini Hosna Amiri Zeinab Barati Somayeh Darzi Ramandi Nioosha Mostofinezhad Amir Hosein Mahmoudi Saeed Reza Ghaffari Source Type: research

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis
CONCLUSIONS: A novel missense variant existing in a compound heterozygous state was identified. Biallelic CRB1 mutations can cause anatomical fovea disruption similar to XLRS but have very different electroretinogram findings. This case report enhances our understanding of the spectrum of biallelic CRB1 mutations.PMID:34783605 | DOI:10.1080/13816810.2021.1998551 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2021 Category: Opthalmology Authors: Zhihang Cheng Richard Hagan Damien C M Yeo Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype
CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis
CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a mo...
Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Chetan Khantibai Patel Suzanne Broadgate Ahmed Shalaby Jing Yu Andrea H Nemeth Susan M Downes Stephanie Halford Source Type: research

Pathogenic variants in the < em > CYP21A2 < /em > gene cause isolated autosomal dominant congenital posterior polar cataracts
CONCLUSION: This is the first report of separate sequence variants in CYP21A2 associated with congenital cataract. Our findings extend the genetic basis for congenital cataract and add to the phenotypic spectrum of CYP21A2 variants and particularly the CAH associated Q318* variant. CYP21A2 has a significant role in mineralo- and gluco-corticoid biosynthesis. These findings suggest that CYP21A2 may be important for extra-adrenal biosynthesis of aldosterone and cortisol in the eye lens.PMID:34748434 | DOI:10.1080/13816810.2021.1998556 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 8, 2021 Category: Opthalmology Authors: Vanita Berry Nikolas Pontikos Alex Ionides Angelos Kalitzeos Roy A Quinlan Michel Michaelides Source Type: research

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
CONCLUSIONS: We found the novel stop codon mutation p.Tyr211Ter in the TSPAN12, which creates a milder phenotype. Discovery of this novel mutation expands the mutation spectrum of TSPAN12, and would be valuable for future genetic disease diagnosis.PMID:34738848 | DOI:10.1080/13816810.2021.1998555 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 5, 2021 Category: Opthalmology Authors: Gang Zou Rui Qi Meijiao Ma Shangyi Fu Qingnan Liang Xiaojun Bi Chanjuan Wang Xuejun Hu Yujuan Cai Xunlun Sheng Source Type: research

Ectopic vortex veins and varices in Donnai Barrow syndrome
CONCLUSIONS: Ectopic vortex veins of the choroid expand the phenotype of DBS and can be helpful in distinguishing the differential diagnosis of high myopia in children. Posterior vortex veins have been described in adult high myopia as acquired but our cases suggest that they could be congenital. Orbital manipulation and hypotony during surgery should be avoided to minimise complications. The evidence to recommend prophylactic laser retinopexy in these cases is inconclusive, and overall we recommend that conservative management should be considered using wide-angle retinal imaging in the clinic.PMID:34704885 | DOI:10.1080/...
Source: Ophthalmic Genetics - October 27, 2021 Category: Opthalmology Authors: Aisling Higham G öran Darius Hildebrand Katharine A J Graham-Evans Rodney D Gilbert Rachel Horton David Hunt Deborah Shears Chetan Kantibhai Patel Source Type: research