Interleukin-1 β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population
Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.PMID:34132166 | DOI:10.1080/13816810.2021.1929337 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Lana Sayuri Makita Bernardo Carvalho Muniz Al ícia Buffoni Roque da Silva Fl ávia Fialho Bajano F ábio Endo Hirata Marcelo do Amaral Priscila Hae Hyun Rim Gabriela Queila de Carvalho-Siqueira Jos é Paulo Cabral de Vasconcellos M ônica Barbosa de Melo Source Type: research

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome
Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.PMID:34132631 | DOI:10.1080/13816810.2021.1938138 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Jae-Hwan Choi Su-Jin Kim Mervyn G Thomas Jae-Ho Jung Eun Hye Oh Jin-Hong Shin Jae Wook Cho Hyang-Sook Kim Ji-Yun Park Seo Young Choi Hee Young Choi Kwang-Dong Choi Source Type: research

Interleukin-1 β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population
Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.PMID:34132166 | DOI:10.1080/13816810.2021.1929337 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Lana Sayuri Makita Bernardo Carvalho Muniz Al ícia Buffoni Roque da Silva Fl ávia Fialho Bajano F ábio Endo Hirata Marcelo do Amaral Priscila Hae Hyun Rim Gabriela Queila de Carvalho-Siqueira Jos é Paulo Cabral de Vasconcellos M ônica Barbosa de Melo Source Type: research

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome
Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.PMID:34132631 | DOI:10.1080/13816810.2021.1938138 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Jae-Hwan Choi Su-Jin Kim Mervyn G Thomas Jae-Ho Jung Eun Hye Oh Jin-Hong Shin Jae Wook Cho Hyang-Sook Kim Ji-Yun Park Seo Young Choi Hee Young Choi Kwang-Dong Choi Source Type: research

Interleukin-1 β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population
Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.PMID:34132166 | DOI:10.1080/13816810.2021.1929337 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Lana Sayuri Makita Bernardo Carvalho Muniz Al ícia Buffoni Roque da Silva Fl ávia Fialho Bajano F ábio Endo Hirata Marcelo do Amaral Priscila Hae Hyun Rim Gabriela Queila de Carvalho-Siqueira Jos é Paulo Cabral de Vasconcellos M ônica Barbosa de Melo Source Type: research

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome
Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.PMID:34132631 | DOI:10.1080/13816810.2021.1938138 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Jae-Hwan Choi Su-Jin Kim Mervyn G Thomas Jae-Ho Jung Eun Hye Oh Jin-Hong Shin Jae Wook Cho Hyang-Sook Kim Ji-Yun Park Seo Young Choi Hee Young Choi Kwang-Dong Choi Source Type: research

Familial exudative vitreoretinopathy with < em > TGFBR2 < /em > mutation without signs of Loeys-Dietz syndrome
Conclusions: FEVR can be associated with a TGFBR2 mutation without showing signs of LDS.PMID:34102952 | DOI:10.1080/13816810.2021.1938137 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 9, 2021 Category: Opthalmology Authors: Toshiaki Asano Kazuma Oku Hiroyuki Kondo Source Type: research

Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in < em > ASPH < /em >
Conclusions: We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.PMID:34018898 | DOI:10.1080/13816810.2021.1923039 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 21, 2021 Category: Opthalmology Authors: Tom Van Hoorde Fanny Nerinckx Elke Kreps Dimitri Roels Philippe Huyghe Mattias Van Heetvelde Hannah Verdin Elfride De Baere Irina Balikova Bart P Leroy Source Type: research

Expanding the clinical spectrum and management of traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in < em > ASPH < /em >
Conclusions: We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.PMID:34018898 | DOI:10.1080/13816810.2021.1923039 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 21, 2021 Category: Opthalmology Authors: Tom Van Hoorde Fanny Nerinckx Elke Kreps Dimitri Roels Philippe Huyghe Mattias Van Heetvelde Hannah Verdin Elfride De Baere Irina Balikova Bart P Leroy Source Type: research

Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view
Conclusions: We therefore recommend that individuals with classic isolated torpedoes undergo evaluations for mutations in the Gardner gene (Adenomatous polyposis coli) and for the presence of gastrointestinal polyps and other systemic features of Gardner syndrome. We also suggest that apparently normal individuals, who are genetically related to patients with known classic torpedoes, undergo inspection of their fundi for the possible presence of characteristic lesions.PMID:34014136 | DOI:10.1080/13816810.2021.1925930 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 20, 2021 Category: Opthalmology Authors: Kirk Packo Morton F Goldberg Source Type: research

Corneal ectasia associated with posterior lamellar opacification
CONCLUSIONS: Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.PMID:34003075 | DOI:10.1080/13816810.2021.1923034 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Madeline Yung Angela C Chen Doug D Chung Alice Barrington Junwei Zhang Ricardo F Frausto Otavio A Magalhaes Anthony J Aldave Source Type: research

< em > MYCN < /em > amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification
Conclusions: MYCNA occurs in a small fraction of Rbs and can occur in the presence of pathogenic RB1 variants. However, where it occurs alongside RB1 alterations, the age of onset appears to be later. MYCNA has yet to be seen as a heritable change. In sporadic cases with early diagnosis, Rbs with no RB1 pathogenic variant identified should be tested for MYCNA. Conversely, tumors with MYCNA should still be screened for RB1 pathogenic variants.PMID:34003079 | DOI:10.1080/13816810.2021.1923038 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Elizabeth A Price Roopal Patel Irene Scheimberg Esin Kotiloglu Karaa Mandeep S Sagoo M Ashwin Reddy Zerrin Onadim Source Type: research

Corneal ectasia associated with posterior lamellar opacification
CONCLUSIONS: Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.PMID:34003075 | DOI:10.1080/13816810.2021.1923034 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Madeline Yung Angela C Chen Doug D Chung Alice Barrington Junwei Zhang Ricardo F Frausto Otavio A Magalhaes Anthony J Aldave Source Type: research

< em > MYCN < /em > amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification
Conclusions: MYCNA occurs in a small fraction of Rbs and can occur in the presence of pathogenic RB1 variants. However, where it occurs alongside RB1 alterations, the age of onset appears to be later. MYCNA has yet to be seen as a heritable change. In sporadic cases with early diagnosis, Rbs with no RB1 pathogenic variant identified should be tested for MYCNA. Conversely, tumors with MYCNA should still be screened for RB1 pathogenic variants.PMID:34003079 | DOI:10.1080/13816810.2021.1923038 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Elizabeth A Price Roopal Patel Irene Scheimberg Esin Kotiloglu Karaa Mandeep S Sagoo M Ashwin Reddy Zerrin Onadim Source Type: research

Corneal ectasia associated with posterior lamellar opacification
CONCLUSIONS: Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.PMID:34003075 | DOI:10.1080/13816810.2021.1923034 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Madeline Yung Angela C Chen Doug D Chung Alice Barrington Junwei Zhang Ricardo F Frausto Otavio A Magalhaes Anthony J Aldave Source Type: research

< em > MYCN < /em > amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification
Conclusions: MYCNA occurs in a small fraction of Rbs and can occur in the presence of pathogenic RB1 variants. However, where it occurs alongside RB1 alterations, the age of onset appears to be later. MYCNA has yet to be seen as a heritable change. In sporadic cases with early diagnosis, Rbs with no RB1 pathogenic variant identified should be tested for MYCNA. Conversely, tumors with MYCNA should still be screened for RB1 pathogenic variants.PMID:34003079 | DOI:10.1080/13816810.2021.1923038 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Elizabeth A Price Roopal Patel Irene Scheimberg Esin Kotiloglu Karaa Mandeep S Sagoo M Ashwin Reddy Zerrin Onadim Source Type: research

Novel heterozygous variants in < em > PXDN < /em > cause different anterior segment dysgenesis phenotypes in monozygotic twins
CONCLUSIONS: This report on two novel compound heterozygous variants in the PXDN gene associated with previously unreported clinical manifestations further expands the genotypic and phenotypic spectrum associated with this gene. Our finding of distinctive clinical phenotypes associated with identical compound heterozygous PXDN variants in monozygotic twins emphasizes the significant clinical variability that can occur, suggesting a potential role for stochastic developmental and/or epigenetic factors in the ultimate pathophysiologic pathway.PMID:33985410 | DOI:10.1080/13816810.2021.1925929 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 14, 2021 Category: Opthalmology Authors: Angela Y Zhu Gregory Costain Cheryl Cytrynbaum Rosanna Weksberg Ronald D Cohn Asim Ali Source Type: research

IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis
Conclusion: These findings propose that the studied IL1B polymorphisms and the IL1A variation have opposite effects on KTCN susceptibility. More large-scale replication studies are warranted to illuminate the precise role of these SNPs on the etiology of eye disorders.PMID:33978542 | DOI:10.1080/13816810.2021.1925926 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 12, 2021 Category: Opthalmology Authors: Mahdiyeh Harati-Sadegh Saman Sargazi Milad Khorasani Alireza Ansari-Moghaddam Shekoufeh Mirinejad Roghayeh Sheervalilou Ramin Saravani Source Type: research

Corneal curvature-associated < em > MTOR < /em > variant differentiates mild myopia from high myopia in Han Chinese population
Conclusion: This study revealed that male high myopia subjects are more prone to carry CC-related MTOR rs74225573 T allele, whereas mild myopia subjects are prone to carry the C allele. MTOR rs7422573 variant could be a genetic marker to differentiate mild from high myopia in risk assessment.Abbreviations: ACD: anterior chamber depth; AL: axial length; AL/CR: axial length/corneal radius ratio; ANOVA: analysis of variance; CC: corneal curvature; CCT: central corneal thickness; C.I.: confidence interval; CMPK1: cytidine/uridine monophosphate kinase 1; CR: corneal radius; D: diopter; GWAS: genome-wide association studies; HWE...
Source: Ophthalmic Genetics - May 12, 2021 Category: Opthalmology Authors: Xiang-Ling Yuan Riping Zhang Yuqian Zheng Lixia Sun Geng Wang Shaowan Chen Yanxuan Xu Shao-Lang Chen Kunliang Qiu Tsz Kin Ng Source Type: research

IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis
Conclusion: These findings propose that the studied IL1B polymorphisms and the IL1A variation have opposite effects on KTCN susceptibility. More large-scale replication studies are warranted to illuminate the precise role of these SNPs on the etiology of eye disorders.PMID:33978542 | DOI:10.1080/13816810.2021.1925926 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 12, 2021 Category: Opthalmology Authors: Mahdiyeh Harati-Sadegh Saman Sargazi Milad Khorasani Alireza Ansari-Moghaddam Shekoufeh Mirinejad Roghayeh Sheervalilou Ramin Saravani Source Type: research

Corneal curvature-associated < em > MTOR < /em > variant differentiates mild myopia from high myopia in Han Chinese population
Conclusion: This study revealed that male high myopia subjects are more prone to carry CC-related MTOR rs74225573 T allele, whereas mild myopia subjects are prone to carry the C allele. MTOR rs7422573 variant could be a genetic marker to differentiate mild from high myopia in risk assessment.Abbreviations: ACD: anterior chamber depth; AL: axial length; AL/CR: axial length/corneal radius ratio; ANOVA: analysis of variance; CC: corneal curvature; CCT: central corneal thickness; C.I.: confidence interval; CMPK1: cytidine/uridine monophosphate kinase 1; CR: corneal radius; D: diopter; GWAS: genome-wide association studies; HWE...
Source: Ophthalmic Genetics - May 12, 2021 Category: Opthalmology Authors: Xiang-Ling Yuan Riping Zhang Yuqian Zheng Lixia Sun Geng Wang Shaowan Chen Yanxuan Xu Shao-Lang Chen Kunliang Qiu Tsz Kin Ng Source Type: research

Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome
Conclusion: We report the first case of CME secondary to rod-cone dystrophy associated with CS showing improvement in anatomy and visual acuity with a topical CAI.PMID:33974487 | DOI:10.1080/13816810.2021.1925928 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 11, 2021 Category: Opthalmology Authors: Mehmet Orkun Sevik Aslan Aykut Özlem Şahin Source Type: research

Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade
Conclusion: We describe here the first case of surgical treatment for macular schisis in a patient with GFS.PMID:33970758 | DOI:10.1080/13816810.2021.1925927 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 10, 2021 Category: Opthalmology Authors: Lorane Bechet Rapha ël Atia Christina Zeitz Saddek Mohand-Sa ïd Jos é-Alain Sahel Pierre-Oliver Barale Isabelle Audo Source Type: research

Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
Conclusions: The new findings in our study group polished the spectrum of the novel mutations and phenotypes of LCA with regional and ethnic variations. This comprehensive database can provide essential information for gene therapies.PMID:33970760 | DOI:10.1080/13816810.2021.1904417 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 10, 2021 Category: Opthalmology Authors: Luyao Zhu Wangbin Ouyang Minfang Zhang Hao Wang Shiying Li Xiaohong Meng Zheng Qin Yin Source Type: research

Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade
Conclusion: We describe here the first case of surgical treatment for macular schisis in a patient with GFS.PMID:33970758 | DOI:10.1080/13816810.2021.1925927 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 10, 2021 Category: Opthalmology Authors: Lorane Bechet Rapha ël Atia Christina Zeitz Saddek Mohand-Sa ïd Jos é-Alain Sahel Pierre-Oliver Barale Isabelle Audo Source Type: research

Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
Conclusions: The new findings in our study group polished the spectrum of the novel mutations and phenotypes of LCA with regional and ethnic variations. This comprehensive database can provide essential information for gene therapies.PMID:33970760 | DOI:10.1080/13816810.2021.1904417 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 10, 2021 Category: Opthalmology Authors: Luyao Zhu Wangbin Ouyang Minfang Zhang Hao Wang Shiying Li Xiaohong Meng Zheng Qin Yin Source Type: research

Leber's Hereditary Optic Neuropathy with visual recovery caused by two rare mutations
Ophthalmic Genet. 2021 May 7:1-3. doi: 10.1080/13816810.2021.1923037. Online ahead of print.NO ABSTRACTPMID:33960259 | DOI:10.1080/13816810.2021.1923037 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 7, 2021 Category: Opthalmology Authors: Eli Kisilevsky Edward A Margolin Source Type: research

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response
Conclusions: We report a novel KCNV2 mutation in a consanguineous family. The unique ffERG features of CDSRR are pathognomonic and thus crucial in guiding clinicians toward genetic testing of the KCNV2 gene. Altogether, multimodal imaging, ffERG, and detailed history taking are important diagnostic tools for differentiating between acquired and inherited retinal disorders.PMID:33960280 | DOI:10.1080/13816810.2021.1920039 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 7, 2021 Category: Opthalmology Authors: Pei-Kang Liu Joseph Ryu Lung-Kun Yeh Kuan-Jen Chen Stephen H Tsang Laura Liu Nan-Kai Wang Source Type: research

Leber's Hereditary Optic Neuropathy with visual recovery caused by two rare mutations
Ophthalmic Genet. 2021 May 7:1-3. doi: 10.1080/13816810.2021.1923037. Online ahead of print.NO ABSTRACTPMID:33960259 | DOI:10.1080/13816810.2021.1923037 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 7, 2021 Category: Opthalmology Authors: Eli Kisilevsky Edward A Margolin Source Type: research