Ophthalmic Genetics最新文献_第3页

Patient reported outcomes in Usher Syndrome: a systematic review. Usher综合征患者报告的预后：一项系统综述。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-26 DOI: 10.1080/13816810.2025.2503390

Angel Gao, Tasha Miller, Brian G Ballios

{"title":"Patient reported outcomes in Usher Syndrome: a systematic review.","authors":"Angel Gao, Tasha Miller, Brian G Ballios","doi":"10.1080/13816810.2025.2503390","DOIUrl":"10.1080/13816810.2025.2503390","url":null,"abstract":"Introduction: Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-being in 10 affected individuals.Methods: A systematic search was conducted on MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, and Cochrane Library until 4 September 2024 to identify studies on patient-reported outcomes (PROs) in USH.Results: 27 studies (1,009 participants, mean age 47.0, 52.4% female) focused on USH, with 74.1% having type 2, 31.4% having type 1, and 6.8% having type 3. 18 studies used quantitative methods, and 9 were qualitative. The Glasgow Benefit Inventory (GBI) was the most common PRO measure, followed by the Nijmegen Cochlear Implant Questionnaire, Usher Lifestyle Survey (ULS), and SF-12 (2 studies each). Weighted GBI scores indicated moderate benefits, but lower physical scores highlighted ongoing limitations. The ULS found that participants needed equipment for information access and mobility assistance. Notably, no studies addressed vision-related interventions, and only one used a vision-specific PRO measure. Qualitative findings emphasized psychological well-being and social support.Discussion: PRO data in USH is limited, underscoring the need for standardized measures and vision-related interventions. Ongoing challenges emphasize the need for multidisciplinary approaches to improve quality of life.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"413-425"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151414","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

Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy. 早发性严重视网膜营养不良患者中一种新型LRAT致病变异的基因检测。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-20 DOI: 10.1080/13816810.2025.2507083

Wen-Li Deng, Ke-Yu Liu, Shu-Lin Liu

{"title":"Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy.","authors":"Wen-Li Deng, Ke-Yu Liu, Shu-Lin Liu","doi":"10.1080/13816810.2025.2507083","DOIUrl":"10.1080/13816810.2025.2507083","url":null,"abstract":"Purpose: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetic disorders affecting the retina, causing significant visual impairment from early childhood. Although over 26 genes have been implicated in EOSRD, the genetic basis remains incompletely characterized in a subset of cases. Our study aims to understand the mutational spectrum of LRAT-related EOSRD in an autosomal recessive family.Methods: Patients underwent comprehensive eye exams with ultra-widefield fundus photography, optical coherence tomography, and fundus autofluorescence. Whole-exome sequencing screened patients and parents, with results confirmed by Sanger sequencing co-segregation analysis. Conservation and in-silico analyses assessed the pathogenicity of the variant and its effect on the encoded protein.Results: A Chinese family with two patients and two carriers participated in this study. A novel homozygous LRAT (NM_004744.5) missense mutation (c.578 G>T, p.Arg193Ile) was identified and confirmed by segregation analysis. Predictive tools suggested that this mutation was harmful, and p.Arg193Ile was located in a highly conserved region of the LRAT protein, indicating potential detrimental effects on protein function.Conclusions: A novel homozygous missense mutation in LRAT (NM_004744.5):c.578 G>T (p.Arg193Ile) was identified in this Han Chinese family with early-onset severe retinal dystrophy. Our research identified a connection between variations in the LART gene and EOSRD, suggesting that further studies are needed to understand the underlying causes of this disease. This discovery expands the mutation spectrum in LRAT and offers valuable insights for exploring the molecular mechanisms involved in the development of EOSRD.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"508-512"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111653","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

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study. 利用基因检测白内障诊断：新的NHS变异指导诊断Nance-Horan综合征，一个案例研究。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-07-23 DOI: 10.1080/13816810.2025.2505911

Erin Sinai, Bilal Azab, Emily Hershman, Jamila Hiasat

{"title":"Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.","authors":"Erin Sinai, Bilal Azab, Emily Hershman, Jamila Hiasat","doi":"10.1080/13816810.2025.2505911","DOIUrl":"10.1080/13816810.2025.2505911","url":null,"abstract":"Background: Nance-Horan Syndrome (NHS) is a rare genetic disorder caused by pathogenic variants in the NHS gene. Phenotypically, NHS is characterized by severe congenital cataracts, dental anomalies, distinct facial features, and developmental defects. Here, we document a novel variant in the NHS gene and investigate the consequent phenotypic manifestations.Methods: Ophthalmologic findings along with medical history were gathered through clinical examination and chart review, slit-lamp biomicroscopy, optical coherence tomography, and physical exam alongside genetic testing. Genetic testing through Next-Generation Sequencing (NGS) was performed to investigate the molecular etiology, with variant confirmation and familial segregation analysis conducted using Sanger sequencing.Results: We identified a novel hemizygous frameshift variant in the NHS gene (c.1861_1862del; p.Met621Glyfs *5), resulting from a dinucleotide deletion, in a patient with bilateral congenital cataracts. Segregation analysis revealed that this variant was maternally inherited. The underlying genetic etiology and op`hthalmic consequences associated with this variant are detailed in this study.Conclusion: This case presents a novel variant in the NHS gene in a symptomatic hemizygous patient, exhibiting significant cataract findings and contributing to the phenotypic spectrum of NHS. This case underscores the importance of genetic testing for NHS and highlights the need for further research on the genetics of NHS.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"499-502"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699192","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

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome. 一种新的HPS4基因5bp缺失与Hermansky-Pudlak综合征有关。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-18 DOI: 10.1080/13816810.2025.2502361

Subramanian Premkumar, Sundar Shiva Sankari, George Sandhra, Manju R Pillai, Subbaiah Ramasamy Krishnadas, Periasamy Sundaresan

{"title":"A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.","authors":"Subramanian Premkumar, Sundar Shiva Sankari, George Sandhra, Manju R Pillai, Subbaiah Ramasamy Krishnadas, Periasamy Sundaresan","doi":"10.1080/13816810.2025.2502361","DOIUrl":"10.1080/13816810.2025.2502361","url":null,"abstract":"Background: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive lysosomal storage disorder characterized by oculocutaneous albinism, bleeding diathesis and in some cases pulmonary fibrosis, granulomatous colitis. While genetic alterations in HPS genes are known to cause the disorder, we explored genetic variations associated with HPS in an individual with clinical manifestations of HPS.Materials and methods: We present a 58-year-old female patient from Southern India, born to consanguineous parents, who presented with clinical features of HPS. Whole-exome sequencing (WES) was performed, followed by Sanger sequencing to validate the specific genetic variation in the proband and available family members.Results: WES analysis identified a novel homozygous 5bp deletion variant in the HPS4 gene (c.838_842del; p.Ser280ProfsTer34) in the proband. Familial genetic screening by Sanger sequencing confirmed the homozygous pathogenic variant in the proband and a heterozygous pathogenic variant in her family members.Conclusion: The identified pathogenic variant from this study emphasizes the importance of genetic analysis for accurate clinical diagnosis, management, and genetic diversity of HPS. To the best of our knowledge, this novel variant identified in the HPS4 gene causing Hermansky-Pudlak Syndrome is the first report deletion variant from the Indian population. Our findings will facilitate genetic counseling of the affected family and reduce the disease burden in future generations.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"474-478"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094488","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 macular colobomata: expanded phenotype of PCARE/C2ORF71. 双侧黄斑结肠：PCARE/C2ORF71扩大表型。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-21 DOI: 10.1080/13816810.2025.2503385

Matteo Pederzolli, Andrea Servillo, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques

引用次数: 0

Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy. 不同类型脊髓性肌萎缩症儿童的屈光不正、斜视及眼部表现。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-03-20 DOI: 10.1080/13816810.2025.2479525

Oğuzhan Kılıçarslan, Aslıhan Yılmaz Çebi, Rengin Yıldırım

{"title":"Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy.","authors":"Oğuzhan Kılıçarslan, Aslıhan Yılmaz Çebi, Rengin Yıldırım","doi":"10.1080/13816810.2025.2479525","DOIUrl":"10.1080/13816810.2025.2479525","url":null,"abstract":"Background: To investigate the ophthalmic characteristics of patients with spinal muscular atrophy (SMA).Methods: Clinical and refractive features of genetically confirmed SMA patients were assessed retrospectively. Three groups were established based on disease type, excluding patients with concurrent eye disease or those with unreliable measurements due to systemic conditions.Results: The study enrolled patients with SMA type 1 (n = 18), SMA type 2 (n = 16), and SMA type 3 (n = 14). Gender distribution showed nine males and nine females in type 1, ten males and six females in type 2, and ten males and four females in type 3, with no significant difference (p = 0.456). Average ages were 2.67 ± 1.03 for type 1, 6.69 ± 3.72 for type 2, and 11.21 ± 5.48 for type 3. SMA Type 1 exhibited a higher hyperopia frequency than the other groups (p = 0.009), while SMA type 2 had a higher myopia prevalence (p = 0.007). No significant differences were found in astigmatism distributions (p = 0.887 and p = 0.778). Best-corrected visual acuity was comparable between type 2 and type 3 (p = 0.304). One type 1 patient had esotropia, and one type 2 patient had exotropia. Three SMA type 1 patients had optic atrophy, and no patients exhibited associated retinal findings.Conclusion: Individuals with SMA may encounter refractive issues, strabismus, and optic atrophy. Patients' refractive conditions seem to differ based on the disease type, potentially linked to the illness's pathophysiology and age group. Comprehensive research with larger sample sizes and control groups is essential for a more profound understanding.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"435-439"},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664232","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

A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2. 由TGFBR2致病变异引起的Loeys-Dietz综合征渗出性玻璃体视网膜病变的基因型与表型关系

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-09-29 DOI: 10.1080/13816810.2025.2565633

Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi Mustafi

{"title":"A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.","authors":"Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi Mustafi","doi":"10.1080/13816810.2025.2565633","DOIUrl":"https://doi.org/10.1080/13816810.2025.2565633","url":null,"abstract":"Introduction: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder most commonly due to pathogenic variants in the transforming growth factor beta receptor genes TGFBR1 and TGFBR2. There have been reports of a few sporadic cases of LDS patients exhibiting a vitreoretinopathy phenotype due to pathogenic variants in the TGFBR2 gene.Case presentation: We report a 13-year-old female with LDS who harbored a de novo pathogenic missense variant (c.1582C>T, p.Arg528Cys) in TGFBR2. She presented with reduced visual acuity in the right eye due to a vitreous hemorrhage. Fluorescein angiography identified neovascularization in the right eye with peripheral avascular retina in both eyes. These phenotypic features were similar to those seen in familial exudative vitreoretinopathy (FEVR). Intravitreal anti-VEGF treatment in the right eye led to visual improvement, followed by laser photocoagulation of the peripheral retina of both eyes to mitigate future complications.Discussion: This is the second reported case of a missense variant at the amino acid residue 528 (Arg528) of TGFBR2 that results in a FEVR-like phenotype in a LDS patient. In silico protein prediction and machine learning analyses of the affected region of the TGFBR2 protein suggest this missense variant disrupts the protein kinase domain. We hypothesize this change influences the Wnt/beta-catenin pathway, leading to abnormal retinal vasculogenesis.Conclusions: This case highlights the importance of a genotype to phenotype relationship in LDS and suggests that certain variants in TGFBR2 may predispose to vitreoretinopathy. Recognition of this is important as timely anti-VEGF and laser intervention can limit visual threatening complications.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192337","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

A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood. IDH3A基因的一种新基因型导致视网膜色素变性，从儿童早期开始产生功能性色盲。

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-09-24 DOI: 10.1080/13816810.2025.2563909

Nuria Rosell-Saiz, Antonio Sierra-Rivera, Jordi Tortosa-Carreres, Clara Monferrer-Adsuara, Javier Montero-Hernández, Carmen Espinós, Raquel Rodríguez-López

{"title":"A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.","authors":"Nuria Rosell-Saiz, Antonio Sierra-Rivera, Jordi Tortosa-Carreres, Clara Monferrer-Adsuara, Javier Montero-Hernández, Carmen Espinós, Raquel Rodríguez-López","doi":"10.1080/13816810.2025.2563909","DOIUrl":"https://doi.org/10.1080/13816810.2025.2563909","url":null,"abstract":"Introduction: We report the case of a 42-year-old Venezuelan woman with childhood-onset autosomal recessive retinitis pigmentosa type 90 (RP90), presenting an unusual and distinctive clinical phenotype characterized by macular pseudocoloboma, very early-onset acquired color vision disorder progressing to severe functional dyschromatopsia, and early-onset severe posterior subcapsular cataracts. Her affected brother exhibited a similar phenotype, while her parents and the other two siblings remained unaffected.Methods and results: Massive parallel sequencing identified two novel IDH3A variants: c.127G>T (chr15:78449926 G>T; no dbSNP entry) and c.419T>C (chr15:78454052T>C; no dbSNP entry), in compound heterozygosity and confirmed to be in trans location. Both missense variants, absent from population databases, were predicted to be deleterious by multiple in silico tools and are located in critical domains involved in enzymatic complex stability, catalytic activity and subunit interactions.Conclusions: This case reinforces the association between IDH3A mutations and RP90, corroborates key phenotypic features described in limited published reports-the presence of macular pseudocoloboma-and expands the mutational spectrum of the gene. Moreover, it highlights the role of mitochondrial metabolism in photoreceptor degeneration and proposes a link between them. Our findings underscore the need for functional studies to elucidate the pathogenic mechanisms underlying IDH3A-related retinopathies.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138261","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

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report. ADAMTSL4型异位晶状体伴波兰综合征1例

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-09-23 DOI: 10.1080/13816810.2025.2565650

Daniel Cool, Shuan Dai, Allister Lee

{"title":"ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.","authors":"Daniel Cool, Shuan Dai, Allister Lee","doi":"10.1080/13816810.2025.2565650","DOIUrl":"https://doi.org/10.1080/13816810.2025.2565650","url":null,"abstract":"Background: Poland Syndrome is primarily characterized by musculoskeletal anomalies, such as unilateral absence of the sternocostal head of the pectoralis major. Ocular associations with Poland syndrome are rare, and ADAMTSL4 mutations, typically linked to autosomal recessive ectopia lentis, have not been previously associated with this condition.Case: We describe a 20-month-old female with left-sided Poland syndrome who presented with intermittent right eye pain and a history of progressive corneal clouding. Examination revealed bilateral ectopia lentis, buphthalmos, and elevated intraocular pressure. Genetic testing identified a homozygous ADAMTSL4 variant (c.767_786del20), a novel association with Poland syndrome. The patient underwent successful bilateral lensectomy and anterior vitrectomy, and management of glaucoma was initiated. Her monochorionic diamniotic (MCDA) twin, also harboring the same ADAMTSL4 mutation, exhibited bilateral ectopia lentis and underwent surgical intervention.Discussion: This report is the first to document an association between Poland syndrome and an ADAMTSL4 mutation, potentially suggesting a shared underlying defect in microfibril assembly. These findings expand our understanding of the genetic and developmental complexities of Poland syndrome and underscore the importance of early ophthalmological evaluation in such patients.Conclusion: This case highlights the significance of genetic and ocular investigations in Poland syndrome, contributing to knowledge on its broader phenotypic spectrum and potential genetic etiologies. Further research is warranted to elucidate the role of ADAMTSL4 in microfibril-related anomalies.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131517","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

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9). 与g蛋白信号调节因子9 （RGS9）纯合变异体（C . 895t >C）相关的弱视多模态成像和电生理特征

IF 1 4区医学

Ophthalmic Genetics Pub Date : 2025-09-15 DOI: 10.1080/13816810.2025.2554660

Grace A Borchert, Rachael C Heath Jeffery, Sian Sperring, Morag Shanks, Jennifer Whitfield, Penny Clouston, Tina Lamey, Jennifer A Thompson, Danial Roshandel, Enid S Chelva, Charles Cottriall, Kanmin Xue, Samantha R De Silva, Jasmina Cehajic-Kapetanovic, Robert E MacLaren, Terri McLaren, Andrea H Nemeth, Susan M Downes, Fred K Chen

{"title":"Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).","authors":"Grace A Borchert, Rachael C Heath Jeffery, Sian Sperring, Morag Shanks, Jennifer Whitfield, Penny Clouston, Tina Lamey, Jennifer A Thompson, Danial Roshandel, Enid S Chelva, Charles Cottriall, Kanmin Xue, Samantha R De Silva, Jasmina Cehajic-Kapetanovic, Robert E MacLaren, Terri McLaren, Andrea H Nemeth, Susan M Downes, Fred K Chen","doi":"10.1080/13816810.2025.2554660","DOIUrl":"10.1080/13816810.2025.2554660","url":null,"abstract":"Purpose: To report multimodal imaging findings and natural history of clinical features in two probands with bradyopsia harboring homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).Methods: Ophthalmic history, clinical examination, fundus autofluorescence (FAF), optical coherence tomography (OCT), microperimetry, flood-illuminated adaptive optics (AO) imaging, and electroretinogram (ERG) were obtained.Results: A 37-year-old male and a 67-year-old female from non-consanguineous parents had normal fundus examination, FAF, and OCT. ERGs for the male case between the age of 4 and 38 years showed no progression. Both probands had flat International Society for Clinical Electrophysiology of Vision (ISCEV) Standard full-field ERG light-adapted (LA) responses but dark-adapted (DA) red x-wave and S-cone responses were present. DA 30 Hz flicker was present after 2 but not after 10 seconds. The reduced amplitude and b:a ratio of the DA10 response improved with increasing interstimulus interval. AO and microperimetry demonstrated preservation of foveal cone density and subnormal retinal sensitivity, respectively. Both measures remained stable over 3 years. The c.895T>C variant was classified as pathogenic.Conclusions: Bradyopsia associated with homozygous RGS9 c.895T>C variants is characterized by normal retinal structure but subnormal macular sensitivity. Extended ERG protocols can be used to confirm delayed phototransduction recovery.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-8"},"PeriodicalIF":1.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145070117","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