Ophthalmic Genetics最新文献_第5页

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report. 一个中国单卵双生角膜病家族的候选变异分析：病例报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-11-15 DOI: 10.1080/13816810.2024.2427295

Chunyuan Song, Kehua Wang, Ling Li, Luping Hu, Jie Bai, Lin Zhao, Chang Liu, Shaowei Li

{"title":"Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.","authors":"Chunyuan Song, Kehua Wang, Ling Li, Luping Hu, Jie Bai, Lin Zhao, Chang Liu, Shaowei Li","doi":"10.1080/13816810.2024.2427295","DOIUrl":"10.1080/13816810.2024.2427295","url":null,"abstract":"Background: Keratoconus (KC) is an asymmetrical bilateral corneal ectasia, of which the pathogenesis is unknown. Moreover, genetic factors play an important role. We reported ophthalmic findings in a Chinese family with monozygotic twins with KC to describe the clinical features and identify genetic variants.Methods: Comprehensive ophthalmic clinical assessments and examinations, including history, slit-lamp biomicroscopy, best-corrected visual acuity, corneal topography, anterior segment optical coherence tomography, and corneal biomechanics, were carried out on the twins and their parents. Whole-genome sequencing (WGS) was performed to identify variants in this family. SIFT, PolyPhen2, MutationTaster, and CADD were used to predict the effect of amino acid substitutions on the affected protein.Results: The twins presented typical KC features. However, their mother did not meet the criteria for a KC diagnosis but exhibited KC subclinical manifestations. After screening, 12 potentially pathogenic variants in 10 genes were identified in both twins and emerged as candidate variants for this family. These genes included 1 previously reported KC-associated variant (ZNF469, c.4384 G>A); 8 variants in 6 KC-associated genes (GRHPR, c.337 G>A, c.862_863del; COL6A1, c.920 G>A; FLG, c.8753C>G; HSPG2, c.9503C>T; KRT82, c.1306 G>A; SCN9A, c.5702_5706del, c.641 G>A); and 3 variants in 3 non-KC-associated genes (PDE6G, c.6C>A; HAL, c.1724C>T; AGBL1, c.2381 G>A).Conclusions: The accumulation of these potentially pathogenic variants in twins may have caused KC in these twins. These results expand the spectrum of KC candidate variants and provide a basis for further studies on KC.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-9"},"PeriodicalIF":1.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625207","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}

引用次数: 0

Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects. 基于干细胞的视网膜疾病疗法：临床试验重点与未来展望。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-11-15 DOI: 10.1080/13816810.2024.2423784

Sagnik Sen, Thales Antonio Cabral de Guimaraes, Aluisio Gameiro Filho, Lorenzo Fabozzi, Rachael A Pearson, Michel Michaelides

{"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":"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.","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}

引用次数: 0

Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study. rs1800624和rs80096349 SNP与糖尿病视网膜病变的关系：一项试验研究。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-11-13 DOI: 10.1080/13816810.2024.2428783

Haider Ali Alnaji, Aizhar H Hasan, Rabab Omran, Mohammed Qasim Al Nuwaini

{"title":"Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study.","authors":"Haider Ali Alnaji, Aizhar H Hasan, Rabab Omran, Mohammed Qasim Al Nuwaini","doi":"10.1080/13816810.2024.2428783","DOIUrl":"https://doi.org/10.1080/13816810.2024.2428783","url":null,"abstract":"Background: One of the conditions that might harm your eyesight is diabetic retinopathy (DR), DR may set in slowly but surely for those with long-term diabetes and poor glucose control. ‎.Objective: To establish a connection between the various genotypes of the rs1800624 SNP and the rs80096349 SNP located in the AGER gene and DR patients. ‎.Methods: The current case-control research examined one hundred thirty-four individuals diagnosed with type 2 diabetes and thirty-six healthy individuals who did not have DM. These samples were obtained from Amir Al-Muminin, a private hospital in Najaf, Iraq. The tetra primers ARMS-PCR method was utilized to determine the genotype of rs1800624 SNP of the AGER gene.Results: A significant association was found between genotypes (AA, AG, and GG) and DR subgroups (NPDR & PDR) in patients (p = 0.001). The AG genotype of rs1800624 SNP is associated with a lowering the risk of developing NPDR (OR = 0.30; 95% CI = 0.12-0.74; p = 0.009 between controls and NPDR, OR = 0.36; 95% CI = 0.14-0.90; p = 0.029 between NDR and NPDR). HRM analysis verified the presence of only two genotypes in the samples: wild type (GG) and a heterozygous mutant (GA). However, a significant association between genotypes was observed when comparing DR status with controls and NDR (p = 0.031).Conclusion: The rs1800624 SNP of the AGER gene is associated with the risk of NPDR and PDR in T2DM, and the polymorphism of the rs80096349 may be associated with retinopathy in the Iraqi population.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625209","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}

引用次数: 0

Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use. 一名患有腺苷脱氨酶 2 (DADA2)缺乏症、高铁蛋白血症和长期服用类固醇的三岁儿童双侧白内障。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-11-12 DOI: 10.1080/13816810.2024.2426568

Kathryn Abe-Ridgway, Michael A Puente

{"title":"Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.","authors":"Kathryn Abe-Ridgway, Michael A Puente","doi":"10.1080/13816810.2024.2426568","DOIUrl":"https://doi.org/10.1080/13816810.2024.2426568","url":null,"abstract":"Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.Case report: A three-year-old recent immigrant from Mexico with a diagnosis of DADA2 and transfusion-dependent anemia was referred to ophthalmology to screen for deferasirox-associated retinopathy in the setting of hemochromatosis. He was incidentally found to have bilateral posterior subcapsular cataracts with no other ophthalmic abnormalities. The child's lab findings were significant for chronic hyperferritinemia, and his history was significant for over a year of oral prednisone use in Mexico.Conclusions: This is the first reported case of cataracts in a child with DADA2. While DADA2 is an autoinflammatory disorder, this child's lack of uveitis suggests a non-inflammatory etiology. Hyperferritinemia is a known cause of cataracts and is common in DADA2, but the child's history of oral steroid use in Mexico could also explain his cataracts. As pediatric cataracts have not otherwise been reported in DADA2, ophthalmologists should be aware of this possibility, especially in children with hyperferritinemia or a history of steroid use.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":1.2,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625211","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}

引用次数: 0

Clinical and genetic characteristics of simple central serous chorioretinopathy according to age. 不同年龄段单纯性中央浆液性脉络膜视网膜病变的临床和遗传特征。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-11-10 DOI: 10.1080/13816810.2024.2426559

Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi

{"title":"Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.","authors":"Taiyo Shijo, Ayumi Fukui, Yoichi Sakurada, Nobuhiro Terao, Seigo Yoneyama, Natsuki Kusada, Atsushi Sugiyama, Mio Matsubara, Yoshiko Fukuda, Wataru Kikushima, Yumi Kotoda, Chie Sotozono, Kenji Kashiwagi","doi":"10.1080/13816810.2024.2426559","DOIUrl":"https://doi.org/10.1080/13816810.2024.2426559","url":null,"abstract":"Purpose: To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.Methods: All patients were diagnosed with simple CSC, defined as a retinal pigment epithelium alteration area equal to or smaller than 2-disc areas based on multimodal imaging at the initial presentation. We cross-sectionally evaluated clinical characteristics at the initial visit and genotyped CFH rs800292 and rs1329428 for all patients using TaqMan technology.Results: As generations decreased, the proportion of males, subfoveal choroidal thickness, and prevalence of fibrin significantly increased (p < 0.001, p < 0.001, and p = 0.012, respectively), and the best-corrected visual acuity improved (p < 0.001); in contrast, the prevalence of pachydrusen significantly decreased (p < 0.001). The younger presentation was significantly associated with male and risk variants (T allele) of CFH rs1329428 (p = 9.1 × 10-7 and p = 0.042, respectively), and patients were estimated to present 2 years younger per one T allele of CFH rs1329428 (p = 0.042, β = -1.95, stepwise regression analysis).Conclusion: Clinical and genetic characteristics differed significantly among patients with simple CSC, depending on their generation.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625215","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}

引用次数: 0

Genetically predicted inflammatory cytokine levels and risk of retinitis pigmentosa. 基因预测的炎症细胞因子水平与视网膜色素变性的风险。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-29 DOI: 10.1080/13816810.2024.2414081

He Ren, Danlei Zhang, Mingzhi Lu, Zhen Chen, Yiqiao Xing

{"title":"Genetically predicted inflammatory cytokine levels and risk of retinitis pigmentosa.","authors":"He Ren, Danlei Zhang, Mingzhi Lu, Zhen Chen, Yiqiao Xing","doi":"10.1080/13816810.2024.2414081","DOIUrl":"10.1080/13816810.2024.2414081","url":null,"abstract":"Purpose: This study aims to estimate the potential causal relationship between genetically predicted levels of inflammatory cytokine and retinitis pigmentosa (RP) by performing Mendelian randomization (MR).Methods: Single nucleotide polymorphisms (SNPs) were identified as instrumental variables (IVs) from publicly available genome-wide association study datasets. Inverse-variance weighted (IVW), MR-Egger, weighted median, simple mode, and weighted mode methods were applied in this MR analysis. IVW and MR-Egger were used to confirm heterogeneity and pleiotropy of identified IVs. Leave-one-SNP-out analysis was used to identify SNPs with potential impact.Results: IVW results revealed that elevated levels of Tumor Necrosis Factor Alpha (TNF-α), Macrophage Inflammatory Protein-1a (MIP1a), and Monokine Induced by Gamma Interferon (MIG) were associated with higher RP risk (OR = 2.358, p = 0.050; OR = 2.583, p = 0.013; OR = 1.851, p = 0.015), while elevated levels of Interleukin-16 (IL-16) were associated with reduced RP risk (OR = 0.723, p = 0.019). The results of heterogeneity and pleiotropy (p > 0.05) confirmed there was no pleiotropy and heterogeneity in our IVW analysis. The association of TNF-α, MIP1a, MIG and IL-16 with RP from sensitivity analyses using these two sets of restricted IVs remained stable.Conclusion: Our study provides evidence of potential causal relationships between several circulating cytokine levels and RP. Elevated levels of TNF-α, MIP1a, and MIG are associated with a higher risk of RP, while elevated levels of IL-16 are associated with a lower risk of RP. These cytokines may be novel biomarkers and therapeutic targets for RP.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-10"},"PeriodicalIF":1.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546628","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}

引用次数: 0

An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome. 患有鲁宾斯坦-泰比综合征的新生儿青光眼的不寻常表现。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-29 DOI: 10.1080/13816810.2024.2422582

Brajesh Lahri, Renu Singh, Shikha Gupta, Arnav Panigrahi, Neerja Gupta, Shama Perveen, Arundhati Sharma, Viney Gupta

引用次数: 0

Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation. 表现为毛周血管瘤的神经纤维瘤病-2型相关分裂瘤病：关于一种新型NF2基因突变的报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-28 DOI: 10.1080/13816810.2024.2422087

Karim Sleiman, Souha Allam, Dany Akiki, Andre Megarbane, Jamal Bleik

{"title":"Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation.","authors":"Karim Sleiman, Souha Allam, Dany Akiki, Andre Megarbane, Jamal Bleik","doi":"10.1080/13816810.2024.2422087","DOIUrl":"https://doi.org/10.1080/13816810.2024.2422087","url":null,"abstract":"Background: Neurofibromatosis type-2-related schwannomatosis (NF2-SWN, formerly neurofibromatosis type 2) is a rare genetic disorder marked by the development of multiple nervous system tumors.Case presentation: We report a 21-month-old female patient who presented for left eye deviation. Upon examination, intermittent exotropia and a fundus mass were detected. Wide field fundus examination revealed the presence of a combined hamartoma involving the optic nerve and retina. This finding was supported by MRI highlighting the lesion's characteristics. The patient's father and other relatives on the paternal side displayed symptoms of NF2-SWN, evident through the presence of acoustic neuroma, although they did not exhibit any ocular symptoms. DNA analysis revealed a novel loss-of-function mutation in exon 15 of the NF2 gene (NM_000268.3: c.1627_1628del, p.Lys543Aspfs *21) in both the patient and her father at a heterozygous state. By the age of three, her vision worsened, and optical coherence tomography showed vitreomacular traction and intraretinal fluid surrounding the lesion.Conclusion: This case underscores the need to consider NF2- SWN in peripapillary hamartoma diagnoses and highlights the importance of genetic testing for early detection and management.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522607","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}

引用次数: 0

Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists. 从眼科医生的角度看遗传性眼病的当前临床实践和需求评估。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-01 Epub Date: 2024-06-04 DOI: 10.1080/13816810.2024.2358965

Fulya Yaylacioglu Tuncay, Eda Karaismailoglu, Şengül Özdek

{"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":"Background: 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.Methods: 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.Results: 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.Conclusion: 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.","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}

引用次数: 0

Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23. 轻度视网膜色素变性，包括与 CDH23 的 2 个致病变体有关的扇形视网膜色素变性。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1080/13816810.2024.2362210

Pankaja Dhoble, Thales A C de Guimarães, Andrew R Webster, Michel Michaelides

{"title":"Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.","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":"Background: Biallelic pathogenic variants in CDH23 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 CDH23 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 CDH23.Materials and methods: 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.Results: Three unrelated cases presented with variable clinical phenotype for USH1 and were found to have two pathogenic variants in CDH23, 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.Conclusion: Patients harbouring c.5237 G > A: p.Arg1746Gln variants in CDH23 can present with a mild phenotype including sector RP. This can aid in better genetic counselling and in prognostication.","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}

引用次数: 0