Ophthalmic Genetics最新文献

{"title":"Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects.","authors":"Sagnik Sen, Thales Antonio Cabral de Guimaraes, Aluisio Gameiro Filho, Lorenzo Fabozzi, Rachael A Pearson, Michel Michaelides","doi":"10.1080/13816810.2024.2423784","DOIUrl":"10.1080/13816810.2024.2423784","url":null,"abstract":"<p><p>Stem cell-based therapy has gained importance over the past decades due to huge advances in science and technology behind the generation and directed differentiation of pluripotent cells from embryos and adult cells. Preclinical proof-of-concept studies have been followed by clinical trials showing efficacy and safety of transplantation of stem cell-based therapy, which are beginning to establish this as a modality of treatment. Disease candidates of interest are primarily conditions that may benefit from replacing dead or dying cells, including advanced inherited retinal dystrophies and age-related macular degeneration, and predominantly seek to transplant either RPE or photoreceptors, although neurotrophic approaches have also been trialed. Whilst a consensus has yet to be reached about the best stage/type of cells for transplantation (stem cells, progenitor cells, differentiated RPE and photoreceptors) and the methods of implantation (sheet, suspension), several CTs have shown safety. There remain potential concerns regarding tumorigenicity and immune rejection; however, with ongoing improvements in cell generation, selection, and delivery, these can be minimized. Earlier studies showed efficacy with immunosuppressive drugs to prevent rejection, and recent donor-matched transplants have avoided the need for immunosuppression. Retinal regenerative medicine is a challenging field and is in a nascent stage but holds tremendous promise. This narrative review delves into the current understanding of stem cells and the latest clinical trials of retinal cell transplantation.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-14"},"PeriodicalIF":1.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625218","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":"Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists.","authors":"Fulya Yaylacioglu Tuncay, Eda Karaismailoglu, Şengül Özdek","doi":"10.1080/13816810.2024.2358965","DOIUrl":"10.1080/13816810.2024.2358965","url":null,"abstract":"<p><strong>Background: </strong>The clinical approach to inherited eye diseases has evolved due to advances in genetic testing methods and treatment opportunities. However, no data are available on the current practices of ophthalmologists in countries, such as Turkey, with higher rates of consanguinity and inherited eye diseases. The aim of this study was to evaluate the current practices, knowledge, and needs of ophthalmologists in Turkey regarding inherited eye diseases.</p><p><strong>Methods: </strong>A 29-item self-administered survey with a branching algorithm was developed through Google Forms. The survey link was sent to 2983 ophthalmologists in Turkey. The survey assessed respondents' occupational characteristics, current practices, knowledge about available diagnostic and therapeutic options, and opinions on improving continuing education and healthcare services.</p><p><strong>Results: </strong>Responses from 414 ophthalmologists (20.8%) were analyzed. The responses suggested that ophthalmologists mainly collaborate with medical geneticists in respect of inherited eye diseases. The majority of ophthalmologists reported a lack of knowledge about genetic diagnostic tests, and approximately 90% of the ophthalmologists thought training after residency was inadequate for inherited eye diseases.</p><p><strong>Conclusion: </strong>This is the most extensive survey exploring ophthalmologists' practice patterns and needs in a setting without specialists or specialized centers in ophthalmic genetics. The results emphasize the need for continued education on updated approaches to inherited eye diseases.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"462-469"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238499","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":"Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in <i>CDH23</i>.","authors":"Pankaja Dhoble, Thales A C de Guimarães, Andrew R Webster, Michel Michaelides","doi":"10.1080/13816810.2024.2362210","DOIUrl":"10.1080/13816810.2024.2362210","url":null,"abstract":"<p><strong>Background: </strong>Biallelic pathogenic variants in <i>CDH23</i> can cause Usher syndrome type I (USH1), typically characterized by sensorineural hearing loss, variable vestibular areflexia, and a progressive form of rod-cone dystrophy. While missense variants in <i>CDH23</i> can cause DFNB12 deafness, other variants can affect the cadherin 23 function, more severely causing Usher syndrome type I D. The main purpose of our study is to describe the genotypes and phenotypes of patients with mild retinitis pigmentosa (RP), including sector RP with two pathogenic variants in <i>CDH23</i>.</p><p><strong>Materials and methods: </strong>Clinical examination included medical history, comprehensive ophthalmologic examination, and multimodal retinal imaging, and in case 1 and 2, full-field electroretinography (ERG). Genetic analysis was performed in all cases, and segregation testing of proband relatives was performed in case 1 and 3.</p><p><strong>Results: </strong>Three unrelated cases presented with variable clinical phenotype for USH1 and were found to have two pathogenic variants in <i>CDH23</i>, with missense variant, c.5237 G > A: p.Arg1746Gln being common to all. All probands had mild to profound hearing loss. Case 1 and 3 had mild RP with mid peripheral and posterior pole sparing, while case 2 had sector RP. ERG results were consistent with the marked loss of retinal function in both eyes at the level of photoreceptor in case 1 and case 2, with normal peak time in the former.</p><p><strong>Conclusion: </strong>Patients harbouring c.5237 G > A: p.Arg1746Gln variants in <i>CDH23</i> can present with a mild phenotype including sector RP. This can aid in better genetic counselling and in prognostication.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"516-521"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875494","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":"Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.","authors":"Christine Law, Niveditha Pattathil, Hailey Simpson, Michael J Ward, Shaun Lampen, Binita Kamath, Tomas S Aleman","doi":"10.1080/13816810.2024.2362214","DOIUrl":"10.1080/13816810.2024.2362214","url":null,"abstract":"<p><strong>Purpose: </strong>To explore patterns of disease expression in Alagille syndrome (ALGS).</p><p><strong>Methods: </strong>Patients underwent ophthalmic examination, optical coherence tomography (OCT) imaging, fundus intravenous fluorescein angiography (IVFA), perimetry and full-field electroretinograms (ffERGs). An adult ALGS patient had multimodal imaging and specialized perimetry.</p><p><strong>Results: </strong>The proband (P1) had a heterozygous pathogenic variant in <i>JAG1</i>; (p.Gln410Ter) and was incidentally diagnosed at age 7 with a superficial retinal hemorrhage, vascular tortuosity, and midperipheral pigmentary changes. The hemorrhage recurred 15 months later. Her monozygotic twin sister (P2) had a retinal hemorrhage at the same location at age 11. Visual acuities for both patients were 20/30 in each eye. IVFA was normal. OCT showed thinning of the outer nuclear in the peripapillary retina. A ffERG showed normal cone-mediated responses in P1 (rod-mediated ERGs not documented), normal ffERGs in P2. Coagulation and liver function were normal. An unrelated 42-year-old woman with a de-novo pathogenic variant (p. Gly386Arg) in <i>JAG1</i> showed a similar pigmentary retinopathy and hepatic vascular anomalies; rod and cone function was normal across large expanses of structurally normal retina that sharply transitioned to a blind atrophic peripheral retina.</p><p><strong>Conclusion: </strong>Nearly identical recurrent intraretinal hemorrhages in monozygotic twins with ALGS suggest a shared subclinical microvascular abnormality. We hypothesize that the presence of large areas of functionally and structurally intact retina surrounded by severe chorioretinal degeneration, is against a predominant involvement of JAG1 in the function of the neurosensory retina, and that instead, primary abnormalities of chorioretinal vascular development and/or homeostasis may drive the peculiar phenotypes.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"522-531"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492866","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":"Familial fleck corneal dystrophy caused by complete deletion of the <i>PIKFYVE</i> gene.","authors":"Víctor R de J López-Rodríguez, Rocío Arce-González, Alejandro Navas-Pérez, Enrique Graue-Hernández, Froylán García-Martínez, Luis Montes-Almanza, Oscar F Chacón-Camacho, Juan C Zenteno","doi":"10.1080/13816810.2024.2365737","DOIUrl":"10.1080/13816810.2024.2365737","url":null,"abstract":"<p><strong>Background: </strong>Fleck corneal dystrophy (FCD) is a rare autosomal dominant disease that affects exclusively the corneal stroma. The disease is caused by heterozygous variants in PIKFYVE, a gene encoding a lipid kinase involved in multiple cellular pathways, primarily participating in membrane dynamics and signaling. This report describes a familial case of FCD caused by a complete deletion of the PIKFYVE gene.</p><p><strong>Material and methods: </strong>A clinical ophthalmic examination was performed on the proband and family members. Genetic testing included next-generation sequencing (multigene panel), and chromosomal microarray analysis. A quantitative PCR assay was designed in order to segregate the deletion.</p><p><strong>Results: </strong>A 19-year-old male, with no family or personal history of ocular disease, presented for evaluation due to an acute illness consisting of burning, foreign body sensation, and red eye. Slit lamp biomicroscopy revealed bilateral small pterygia and scattered bilateral white opacities in the corneal stroma, a very similar corneal phenotype was found in the 47-year-old father, who was asymptomatic. NGS detected a heterozygous deletion of the entire PIKFYVE coding sequence. CMA in DNA from the propositus indicated a 543 kb deletion in 2q33.3q34 spanning the entire PIKFYVE gene. The deletion was confirmed in the father.</p><p><strong>Conclusions: </strong>We add to the molecular spectrum of FCD by describing a familial case of a whole PIKFYVE gene deletion in affected subjects. Our findings support that normal expression of PIKFYVE is necessary for corneal keratocytes homeostasis and normal corneal appearance. We conclude that PIKFYVE haploinsufficiency is the molecular mechanism underlying this familial case of FCD.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"532-536"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492865","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":"Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.","authors":"Steven Bonneau, Merve Kulbay, Shigufa Kahn-Ali, Cynthia X Qian","doi":"10.1080/13816810.2024.2357705","DOIUrl":"10.1080/13816810.2024.2357705","url":null,"abstract":"<p><strong>Introduction: </strong>Choroideremia (CHM) is an X-linked inherited retinal disease mostly affecting males. However, women with phenotypic and/or genotypic evidence of CHM may develop degenerative visual disability with advancing age. Our objective was to determine the visual impacts of phenotypic and/or genotypic evidence of CHM in women and its associated psychosocial burden and influence on activities of daily living (ADLs).</p><p><strong>Methods: </strong>We conducted an international cross-sectional survey from April to December 2022 using an e-questionnaire distributed through not-for-profit stakeholder organizations and social media plat-forms.</p><p><strong>Results: </strong>With a total of 55 respondents (<i>n</i> = 55), most women with phenotypic and/or genotypic evidence of CHM (76%) reported a change in their visual acuity. When assessing its impact on ADLs, Pearson's correlation coefficient showed a negative correlation between driving (<i>p</i> = 0.046) and mobility capabil-ities (0.046) with the respondent's age. More than half of women reported being afraid, anxious, and stressed, with women below the age of 50 years old reporting a significantly higher level of distress and hopelessness (<i>p</i> = 0.003), anxiety (<i>p</i> = 0.00007), issues with relaxing (<i>p</i> = 0.025), and negative personal thoughts (<i>p</i> = 0.042).</p><p><strong>Conclusion: </strong>Overall, this survey outlines both physical and psychological burden of being a woman with phenotypic and/or genotypic evidence of CHM. Given the limited clinical research in females affected by CHM, this patient-centered survey is a crucial advocacy tool for these individuals.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"452-461"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141284379","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":"Refractive errors in patients with Bardet Biedl syndrome.","authors":"Leyla Yavuz Saricay, Grace Baldwin, Eric A Moulton, Efren Gonzalez, Farah Rajabi, David G Hunter, Anne B Fulton","doi":"10.1080/13816810.2024.2357296","DOIUrl":"10.1080/13816810.2024.2357296","url":null,"abstract":"<p><strong>Purpose: </strong>Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. Within corneal development, primary cilia serve a critical role. We sought to investigate the association of BBS with corneal astigmatism among a cohort of patients with BBS.</p><p><strong>Methods: </strong>This was a cross-sectional, retrospective study performed at a pediatric ophthalmology department of a tertiary hospital. The study enrolled 45 patients with genetically confirmed Bardet-Biedl syndrome, encompassing a total of 90 eyes observed from February 2011 to August 2021. Spherical and cylindrical refractive errors and keratometry outcome measures, including diopter (D) values at the flattest and steepest axes, were recorded. Corneal astigmatism of greater than 3D is considered extreme corneal astigmatism based on previously published data.</p><p><strong>Results: </strong>Among 45 patients (M:26; F:19), the mean age was 16.4 ± 8.2 years, and the mean best-corrected visual acuity was 20/60. The most common molecular diagnosis was <i>BBS1</i>, seen in 24 of 45 (53.3%). Among all the patients, the mean spherical refractive error was -2.9 ± 3.8D. The mean cylindrical refractive error was 2.6 ± 1.5D. The mean keratometry values at the flattest axis was 43.5 ± 5.3D (39.4-75.0) and at the steepest axis was 47.2 ± 7.3D(41.5-84.0). Among all the patients with BBS, the mean corneal astigmatism was 3.7 ± 1.0D(0.5-7.1), which is considered extreme.</p><p><strong>Conclusion: </strong>A cohort of individuals with BBS demonstrated high corneal astigmatism. These results suggest an association between corneal astigmatism and primary ciliary dysfunction and may assist in clinical management and future therapeutic targets among BBS and other corneal disorders.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"435-440"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492868","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":"Clinical and molecular findings in children with retinitis pigmentosa.","authors":"Cheng Li, Chengyue Zhang, Dayong Bai, Yanhui Cui","doi":"10.1080/13816810.2024.2357305","DOIUrl":"10.1080/13816810.2024.2357305","url":null,"abstract":"<p><strong>Purpose: </strong>To study the clinical and genetic features of a cohort of RP children.</p><p><strong>Methods: </strong>We identified 46 RP patients with pathogenic or likely pathogenic mutations among 96 patients with a clinical diagnosis of retinitis pigmentosa. All of the patients underwent comprehensive clinical examinations and genetic testing. A retrospective study was conducted on 46 children with retinitis pigmentosa. The genetic and clinical characteristics of children with different genotypes were analyzed.</p><p><strong>Results: </strong>Among the 46 children, 13 inherited X-linked gene mutations, including 9 <i>RPGR</i> and 4 <i>RP2</i> mutations. There were 10 cases of autosomal dominant genes and 23 cases of autosomal recessive genes. XLRP accounted for a larger proportion of children, as observed in previous studies on RP. We found that RPGR genes were the most commonly mutated genes in RP children. The most frequently mutated gene was <i>RPGR</i> (9.3%), followed by <i>RP2</i> (4.2%) and <i>RPE65</i> (4.2%). Forty-six patients had mutations in 21 different genes, 19 of which were novel mutations.Most children with XLRP have a high degree of myopia, poor vision, and severe clinical symptoms. Frameshift mutations were more common in XLRP, followed by nonsense mutations. The onset of XLRP is relatively serious since childhood. Most children with ADRP have relatively good visual acuity and mild clinical symptoms, and missense mutations are common. The clinical manifestations of ARRP in children are more severe than those of ADRP in children but milder than those of XLRP in children, and missense mutations are common. The manifestations of <i>RPE65</i> mutations are also severe and appear early.</p><p><strong>Conclusions: </strong>Our results revealed that XLRP gene mutations were more common in children than in adults, as observed in previous studies on RP. The proportion of RP children with ADRP is relatively small. The new findings in our study polished the spectrum of novel mutations and the proportions of different genotypes in pediatric patients. The onset of XLRP occurred earlier. The genes with a high incidence in children were all relatively severe gene types of RP. This comprehensive database may provide essential information regarding the initial stage of RP.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"441-451"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110485","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":"Detailed phenotype and long-term follow-up of <i>RAB28-</i>associated cone-rod dystrophy.","authors":"Nitya T Rao, Alexander Sumaroka, Arlene J Santos, Kelsey M Parchinski, Mariejel L Weber, Albert M Maguire, Artur V Cideciyan, Tomas S Aleman","doi":"10.1080/13816810.2024.2362204","DOIUrl":"10.1080/13816810.2024.2362204","url":null,"abstract":"<p><strong>Purpose: </strong>To gain an insight into the pathophysiology of <i>RAB28-</i>associated inherited retinal degeneration through detailed phenotyping and long-term longitudinal follow-up.</p><p><strong>Methods: </strong>The patient underwent complete ophthalmic examinations. Visual function was assessed with microperimetry, full-field electroretinography (ffERG), imaging with optical coherence tomography (OCT), short-wave (SW), and near-infrared (NIR) fundus autofluorescence (FAF).</p><p><strong>Results: </strong>A healthy Haitian woman with homozygous pathogenic variants (c.68C > T; p.Ser23Phe) in <i>RAB28</i> presented at 16 years of age with a four-year history of blurred vision. Visual acuities were 20/125 in each eye, which remained relatively stable since. At age 27, cone ffERGs were non-detectable and borderline for rod-mediated responses. Kinetic fields were full to a V-4e target, undetectable to a small I-4e stimulus. Microperimetry showed an absolute central scotoma surrounded by a pericentral relative scotoma. SD-OCT showed an undetectable or barely detectable foveal and parafoveal photoreceptor outer nuclear layer (ONL), photoreceptor outer segment (POS), and retinal pigment epithelium (RPE) signals and loss of the SW- and NIR-FAF signals. This atrophic region was separated from a normally laminated retina by a narrow transition zone (TZ) of hyper SW- and NIR-FAF that co-localized with preserved ONL but abnormally thinned POS and RPE. There was minimal centrifugal (<100 <math><mi>μ</mi></math>m) expansion over a six-year period.</p><p><strong>Conclusion: </strong>The cone-rod dystrophy phenotype documented herein supports a critical role of RAB28 for cone function and POS maintenance. Severe central photoreceptor and RPE loss with a predilection for POS loss in TZs suggests possible disruptions of complex mechanisms that maintain central cone photoreceptor and RPE homeostasis.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"506-515"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492864","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":"Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.","authors":"Rola Ba-Abbad","doi":"10.1080/13816810.2024.2352377","DOIUrl":"10.1080/13816810.2024.2352377","url":null,"abstract":"","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"542-545"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066089","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}