Ophthalmic Genetics最新文献

{"title":"Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the <i>ABCC6</i> gene.","authors":"Amit V Mishra, Rosanna Martens, Ian M MacDonald","doi":"10.1080/13816810.2023.2219737","DOIUrl":"10.1080/13816810.2023.2219737","url":null,"abstract":"<p><strong>Background: </strong>Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the <i>ABCC6</i> gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel <i>ABCC6</i> mutation causing PXE in a patient with a mixed phenotype of PXE and retinitis pigmentosa (RP).</p><p><strong>Case: </strong>A 37-year-old female presented with decreased peripheral vision and nyctalopia. Ocular imaging revealed angioid streaks emanating from the optic nerve as well as peripheral pigmentary changes and bone spicules. Genetic testing revealed two mutations in <i>ABCC6</i> in trans. No other mutation was identified.</p><p><strong>Conclusion: </strong>We present a rare case with ocular findings of PXE and RP in a patient with a novel <i>ABCC6</i> mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9545747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.","authors":"Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren, Anna Lindstrand","doi":"10.1080/13816810.2023.2215332","DOIUrl":"10.1080/13816810.2023.2215332","url":null,"abstract":"<p><strong>Background: </strong>The sodium channel and clathrin linker 1 gene (<i>SCLT1</i>) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted to outline all clinical features. Here, we present a family with a milder phenotype of <i>SCLT1</i>-related disease.</p><p><strong>Material and methods: </strong>Comprehensive eye examination including fundus images, OCT, color vision, visual fields and electroretinography were performed. Affected individuals were assessed by a pediatrician and a medical geneticist for systemic features of ciliopathy. Investigations included echocardiography, abdominal ultrasonography, blood work-up for diabetes, liver and kidney function. Genetic testing included NGS retinal dystrophy panel, segregation analysis and transcriptome sequencing.</p><p><strong>Results: </strong>Two male children, age 10 and 8 years, were affected with attention deficit hyperactivity disorder (ADHD), obesity and mild photophobia. The ophthalmic exam revealed reduced best-corrected visual acuity (BCVA), strabismus, hyperopia, astigmatism and moderate red-green defects. Milder changes suggesting photoreceptors disease were found on retinal imaging. Electroretinogram confirmed cone photoreceptors dysfunction. Genetic testing revealed a homozygous likely pathogenic, splice-site variant in <i>SCLT1</i> gene NM_144643.3: c.1439 + 1del in the proband and in the affected brother. The unaffected parents were heterozygous for the <i>SCLT1</i> variant. Transcriptome sequencing showed retention of intron 16 in the proband.</p><p><strong>Conclusions: </strong>In this report, we highlight the importance of further extensive diagnostics in patients with unexplained reduced vision, strabismus, refractive errors and ADHD spectrum disorders. <i>SCLT1</i>-related retinal degeneration is very rare and isolated reduced function of cone photoreceptors has not previously been observed.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9586546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease","authors":"Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian, Margaret Reynolds, Undiagnosed Diseases Network","doi":"10.1080/13816810.2023.2291683","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291683","url":null,"abstract":"In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in CLCN6, encoding the ClC-6 Cl−/H±exchanger.Here, we report the ophthalmic findings o...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138631242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report","authors":"Lauren B. Yeager, Daniel S. Casper, Armando Del Portillo, Brian P. Marr","doi":"10.1080/13816810.2023.2291664","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291664","url":null,"abstract":"Schimmelpenning-Feurstein-Mims Syndrome (SFMS) is a rare neurocutaneous disorder. Herein, we describe a novel case and review the phenotypic spectrum and molecular findings of SFMS from an ophthalm...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138692919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants","authors":"Rita Rodrigues, Rita Quental, Renato Santos Silva, Lídia Costa, Sérgio Estrela-Silva","doi":"10.1080/13816810.2023.2291670","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291670","url":null,"abstract":"We report a case of Hermansky–Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1) and highlight the genetic challenges associated with ...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138685632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome","authors":"Chunli Chen, Sitong Guo, Zhiqin Huang, Tao Fu, Libin Jiang, Fred Kuanfu Chen","doi":"10.1080/13816810.2023.2291669","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291669","url":null,"abstract":"48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabism...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138685743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa","authors":"Leslie Huang, Elizabeth Kellom, Kimberly Stepien","doi":"10.1080/13816810.2023.2291672","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291672","url":null,"abstract":"Pathogenic variants in IFT140 have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of IFT140-related RP have been associated with short-rib thor...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138631519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutations in AGBL5 associated with Retinitis pigmentosa","authors":"Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin","doi":"10.1080/13816810.2023.2291687","DOIUrl":"https://doi.org/10.1080/13816810.2023.2291687","url":null,"abstract":"Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constricti...","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138631247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>RPGRIP1</i>-related retinal disease presenting as isolated cone dysfunction.","authors":"Arif O Khan","doi":"10.1080/13816810.2023.2175224","DOIUrl":"10.1080/13816810.2023.2175224","url":null,"abstract":"<p><strong>Purpose: </strong>Bialleic <i>RPGRIP1</i> pathogenic variants are typically associated with severe Leber congenital amaurosis (non-recordable electroretinography [ERG]) and less commonly with cone-rod dystrophy. This report highlights isolated cone dysfunction as an alternative <i>RPGRIP1</i>-related presenting phenotype.</p><p><strong>Methods: </strong>Retrospective case series.</p><p><strong>Results: </strong>Four individuals (two sibships from two unrelated families) had low vision, nystagmus, photophobia, and a grossly normal retinal appearance since soon after birth. ERG confirmed non-recordable photopic function with normal scotopic function. Genetic testing revealed affected members from the two families to harbor two different homozygous <i>RPGRIP1</i> variants (Family 1: c.3565C>T; p.Arg1189*; Family 2: c.2711_2741delinsATATTAG; p.Gly904_Lys914delinsAspIIeArg). Follow-up for Family 1 revealed deterioration of pan-retinal function (non-recordable ERGs by 11 and 7 years old) and thus a final diagnosis of cone-rod dystrophy. Follow-up for Family 2 showed stable retinal function (normal ERG scotopic tracings maintained at 12 and 21 years old) and thus a diagnosis of isolated cone dysfunction.</p><p><strong>Conclusions: </strong>Isolated cone dysfunction that progresses to pan-retinal dysfunction or remains relatively stationary is an alternative phenotype related to biallelic <i>RPGRIP1</i> pathogenic variants.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9131088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.","authors":"Ryan Kenney, Rucha Borkhetaria, Ajay Soni, Ermal Aliu, Amanda Ely","doi":"10.1080/13816810.2022.2155845","DOIUrl":"10.1080/13816810.2022.2155845","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the DYNC1H1 gene have been linked to multiple neurologic syndromes with a multitude of clinical manifestations, both ocular and non-ocular. Previous case reports have outlined various ocular phenotypes, including cataracts of congenital onset, infantile onset, and adult onset with lack of further ophthalmologic detail.</p><p><strong>Case presentation: </strong>Our case report outlines, in more detail, a 24-month-old male with a heterozygous mutation in the DYNC1H1 gene who developed a white, intumescent cataract in his left eye and a posterior subcapsular cataract in his right eye with evidence of progressive axial myopia.</p><p><strong>Conclusions: </strong>Based on the findings outlined in our case we suggest eye exams at regular intervals during early childhood in patients with DYNC1H1 mutations to screen for amblyogenic ocular pathology and potential rapidly developing cataracts.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10734238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}