Ophthalmic Genetics最新文献

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Phenotypic variability of a dominant CRX mutation and molecular insights into pathogenesis. 显性CRX突变的表型变异性及其发病机制的分子见解。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-18 DOI: 10.1080/13816810.2026.2743837
Isabella V Y Gomes, Chi Sun, Xiaodong Zhang, Rithwick Rajagopal, Shiming Chen
{"title":"Phenotypic variability of a dominant CRX mutation and molecular insights into pathogenesis.","authors":"Isabella V Y Gomes, Chi Sun, Xiaodong Zhang, Rithwick Rajagopal, Shiming Chen","doi":"10.1080/13816810.2026.2743837","DOIUrl":"https://doi.org/10.1080/13816810.2026.2743837","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the cone-rod homeobox (<i>CRX</i>) gene cause dominantly inherited retinopathies with striking phenotypic variability. We define the clinical spectrum and molecular mechanism of a Class III <i>CRX</i> frameshift variant (c.590del, p.(Pro197Argfs*22); CRX<sup>P197Rfs</sup>) segregating in a four-generation family.</p><p><strong>Materials and methods: </strong>Six family members underwent genetic testing by a retinal dystrophy panel with Sanger confirmation. Carriers received longitudinal phenotyping, including visual acuity, fundus autofluorescence, optical coherence tomography (OCT), and full-field electroretinography (ffERG). Variant function was assessed by rhodopsin-promoter reporter assays in HEK293 cells and <i>Crx</i><sup>-/-</sup> mouse retinal explants.</p><p><strong>Results: </strong>Three carriers shared the identical variant yet showed cone-rod dystrophy in variable severity and adult-onset ages. The proband developed progressive central vision loss, nyctalopia, outer-retinal atrophy, and reduced ffERG responses. Two carriers remained asymptomatic with preserved acuity and normal ffERG, exhibiting only mild outer nuclear layer thinning and abnormal autofluorescence. CRX<sup>P197Rfs</sup> lacked transactivation activity and suppressed wild-type CRX function in a dose-dependent manner.</p><p><strong>Conclusions: </strong><i>CRX<sup>P197Rfs</sup></i> is a dominant-negative allele that produces cone-rod dystrophy with variable intrafamilial phenotypes. These findings caution against genotype-based prognostication and support mutant-allele knockdown with gene augmentation as therapeutic strategies.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-9"},"PeriodicalIF":1.0,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220580","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
Retinitis Pigmentosa and erythrocytic microcytosis related to hypomorphic variants in the TRNT1 gene. 色素性视网膜炎和红细胞小细胞增多症与TRNT1基因的亚型变异有关。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-04 DOI: 10.1080/13816810.2026.2670419
Rhea Suribhatla, Saoud Al-Khuzaei, Penny Clouston, Morag Shanks, Stephanie Halford, Susan M Downes, Samantha R de Silva
{"title":"Retinitis Pigmentosa and erythrocytic microcytosis related to hypomorphic variants in the <i>TRNT1</i> gene.","authors":"Rhea Suribhatla, Saoud Al-Khuzaei, Penny Clouston, Morag Shanks, Stephanie Halford, Susan M Downes, Samantha R de Silva","doi":"10.1080/13816810.2026.2670419","DOIUrl":"https://doi.org/10.1080/13816810.2026.2670419","url":null,"abstract":"<p><strong>Introduction: </strong>The tRNA Nucleotidyl Transferase 1 (TRNT1) gene encodes an enzyme that adds a trinucleotide sequence (CCA) to the 3'-end of transfer RNA. Biallelic pathogenic TRNT1 variants are associated with a multisystem disorder featuring sideroblastic anaemia, B-cell immunodeficiency, periodic fevers and developmental delay. More recently, hypomorphic TRNT1 variants have been linked to a milder phenotype involving retinitis pigmentosa (RP) and erythrocytic microcytosis.</p><p><strong>Methods: </strong>We report a novel case of TRNT1-related RP associated with erythrocytic microcytosis. Multimodal retinal imaging and electrodiagnostic testing were used to assess the clinical phenotype. Genetic testing was performed using whole genome sequencing and in silico analysis tools assessed variant pathogenicity.</p><p><strong>Results: </strong>We describe a 13-year-old female with RP, cystoid macular oedema, optic nerve head drusen, and erythrocytic microcytosis. Aged 18, she experienced two unexplained tonic-clonic seizures. Genetic testing showed compound heterozygosity for c.1252dup p.(Ser418fs) and c.193G>C p.(Ala65Pro) variants in TRNT1.</p><p><strong>Discussion: </strong>We report the fourth case of TRNT1-related RP with erythrocytic microcytosis, with a hypomorphic TRNT1 variant being in trans with a truncating variant. The significance of the seizures in our patient remains unclear. These findings contribute further to the current knowledge regarding the phenotypic spectrum associated with TRNT1.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113020","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
Late onset retinoblastoma in a child with 13 q deletion syndrome. 13q缺失综合征患儿的晚发性视网膜母细胞瘤。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-04 DOI: 10.1080/13816810.2026.2738873
Mahmoud Dahi AboEldahab, Nada Abdel Salam Abdel Aziz, Azza Mohamed Ahmed Saied, Khadiga Yahia Eltonbary, Somaia Ahmed Saad El-Din, Hisham Mohamed Khairy Mahmoud Helmy Abdel Dayem, Esraa Abdelhakeem Diab, Eman Ahmed Nabil AlGammal
{"title":"Late onset retinoblastoma in a child with 13 q deletion syndrome.","authors":"Mahmoud Dahi AboEldahab, Nada Abdel Salam Abdel Aziz, Azza Mohamed Ahmed Saied, Khadiga Yahia Eltonbary, Somaia Ahmed Saad El-Din, Hisham Mohamed Khairy Mahmoud Helmy Abdel Dayem, Esraa Abdelhakeem Diab, Eman Ahmed Nabil AlGammal","doi":"10.1080/13816810.2026.2738873","DOIUrl":"https://doi.org/10.1080/13816810.2026.2738873","url":null,"abstract":"<p><p>A nine-year-old boy presented with right leukocoria, prompting an ophthalmic evaluation that revealed an exophytic group E retinoblastoma. Initial systemic assessment revealed intellectual disability and dysmorphic facies. Conventional cytogenetic analysis of peripheral blood lymphocytes revealed male karyotype (46, XY). Fluorescence in situ hybridization (FISH) using a locus-specific probe targeting the RB1 gene at chromosome 13q14 demonstrated a deletion in approximately 90% of interphase nuclei and consequently the diagnosis of 13 q deletion was established. Chromosomal microarray identified a ~ 20-Mb deletion at 13q13.3-q21.1 (×1) and a ~ 20-Mb duplication at 13q21.31-q31.1 (×3). MRI orbit and brain showed no optic nerve or intracranial extension. Metastatic work up including CSF sample and BM aspirates was free. Due to advanced group E retinoblastoma, the decision was to perform enucleation. Subsequent histopathological examination revealed high risk features in the enucleated eye and the child received post enucleation chemotherapy. One year afterward, there are no detectable recurrences. To our knowledge, this represents one of the oldest reported cases of retinoblastoma in association with 13q deletion syndrome.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.0,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113069","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
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia. 新加坡华人的黄斑营养不良:首次报道来自东南亚的Doyne蜂窝视网膜营养不良和晚发性视网膜变性。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-03-15 DOI: 10.1080/13816810.2026.2644217
Peijun Zhang, Mathieu Quinodoz, Charles Ong, Josephine Rui Ying Ho, Rachael W C Tang, Tien-En Tan, Choi Mun Chan, Ranjana S Mathur, Hwee Goon Tay, Carlo Rivolta, Beau J Fenner
{"title":"Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.","authors":"Peijun Zhang, Mathieu Quinodoz, Charles Ong, Josephine Rui Ying Ho, Rachael W C Tang, Tien-En Tan, Choi Mun Chan, Ranjana S Mathur, Hwee Goon Tay, Carlo Rivolta, Beau J Fenner","doi":"10.1080/13816810.2026.2644217","DOIUrl":"10.1080/13816810.2026.2644217","url":null,"abstract":"<p><strong>Introduction: </strong>We report two ethnic Chinese families affected by distinct drusenoid inherited maculopathies: Doyne Honeycomb Retinal Dystrophy (DHRD) and Late-Onset Retinal Degeneration (L-ORD)-to expand their recognized phenotypic and ethnic spectrum.</p><p><strong>Methods: </strong>Affected members underwent multimodal ophthalmic imaging, including fundus photography, autofluorescence, optical coherence tomography, and widefield imaging. Genetic testing involved whole exome and targeted sequencing with haplotype and ancestry analysis.</p><p><strong>Results: </strong>In the DHRD family, two members demonstrated peripapillary drusen, while one also had subretinal drusenoid deposits with minimal progression and no evidence of choroidal neovascularization (CNV). In the L-ORD family, two individuals showed progressive ellipsoid zone loss, outer retinal atrophy, and CNV with spontaneous regression. Pathogenic variants <i>EFEMP1</i> c.1033C > T (p.Arg345Trp) and <i>C1QTNF5</i> c.489C > G (p.Ser163Arg) were identified in the DHRD and L-ORD families, respectively. Genetic ancestry revealed no evidence of European admixture.</p><p><strong>Conclusion: </strong>DHRD and L-ORD, although originally believed to originate from European founder variants, are now established as probable mutational hotspots. We have now uncovered the first known family with DHRD in Southeast Asia, and the first L-ORD family without European heritage. Early recognition of inherited retinal diseases should be considered in patients with atypical drusen and family history of vision loss.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"444-450"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147463785","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
Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations. 隔天与每日局部布林唑胺治疗遗传性杆状锥体视网膜变性的囊性黄斑病变。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-03-31 DOI: 10.1080/13816810.2026.2651182
Chiya Robert Barrett, Gulunay Kiray, Orit Barrett, Andrea L Vincent
{"title":"Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations.","authors":"Chiya Robert Barrett, Gulunay Kiray, Orit Barrett, Andrea L Vincent","doi":"10.1080/13816810.2026.2651182","DOIUrl":"10.1080/13816810.2026.2651182","url":null,"abstract":"<p><p><b>Introduction:</b> Cystic maculopathy (CM) occurs in 10-50% of inherited rod-cone retinal degenerations (RCD), with carbonic anhydrase inhibitors reported to show improvement, but rebound may occur. Alternate day treatment with topical Brinzolamide may alleviate this effect. We assessed treatment response in alternate day vs continuous day dosing.<b>Methods:</b> A retrospective chart review of patients with RCD undertaken, identifying those with CM, recording treatment regimen, vision, and OCT parameters. Outcomes were visual acuity (VA) improvement ≥3 letters significant, OCT reduction of mean cyst size (CMT) ≥11% significant, and macular volume (MV).<b>Results:</b> Of 260 patients identified, 66 (25.3%) had CM; complete data were available for 22 patients (41 eyes) in Group 1 (alternate day) and 12 patients (22 eyes) in Group 2 (continuous). In group 1, VA improved in 29% patients, with significant CMT mean reduction of 16 μm (80% eyes). Group 2 VA improved in 13.6% patients, with significant CMT mean reduction of 34 μm (77% eyes). No statistical difference between groups was found with VA or MV. Mean CMT reduction was significant in Group 2, 21 μm (p-value 0.034) and VA improvement was better with alternate day treat- ment.<b>Discussion:</b> This study suggests both treatment regimens have similar functional outcomes, enabling a tailored and patient-centric approach to dosing.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"451-458"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581858","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
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss. 新的杂合UCHL1变异导致严重的视神经萎缩和视力丧失。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-04-09 DOI: 10.1080/13816810.2026.2655887
Natalie S Lee, Clare L Fraser, Zornitza Stark, Kate Ahmad
{"title":"Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.","authors":"Natalie S Lee, Clare L Fraser, Zornitza Stark, Kate Ahmad","doi":"10.1080/13816810.2026.2655887","DOIUrl":"10.1080/13816810.2026.2655887","url":null,"abstract":"<p><strong>Introduction: </strong>Heterozygous UCHL1 variants have recently been associated with an autosomal dominant neurodegenerative disease characterized by spastic ataxia, optic atrophy and neuropathy.</p><p><strong>Methods: </strong>We describe two individuals from a single family who presented with optic atrophy and progressive vision loss, without demonstrable spasticity, ataxia or peripheral neuropathy.</p><p><strong>Results: </strong>Genetic testing revealed a novel pathogenic <i>UCHL1</i> variant accounting for the two individuals' phenotype.</p><p><strong>Discussion: </strong>Our findings highlight the significant phenotypic variability related to heterozygous <i>UCHL1-</i>related disease. Clinicians should consider <i>UCHL1</i> variants in individuals presenting with multigenerational optic atrophy even in the absence of multisystem features.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"508-511"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646034","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 CEP78 variant and rod-cone dystrophy in non-consanguineous siblings. 一种新的CEP78变异和非近亲兄弟姐妹的杆状锥体营养不良。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-04-16 DOI: 10.1080/13816810.2026.2652568
Dominic S Ting, Graham E Holder, Melissa C Tien, Karen J Chia, Chia Wei Lim, Wei Kiong Ngo
{"title":"A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.","authors":"Dominic S Ting, Graham E Holder, Melissa C Tien, Karen J Chia, Chia Wei Lim, Wei Kiong Ngo","doi":"10.1080/13816810.2026.2652568","DOIUrl":"10.1080/13816810.2026.2652568","url":null,"abstract":"<p><strong>Introduction: </strong>To report a case of two siblings with a novel CEP78 mutation, presenting with Rod-Cone Dystrophy (RCD).</p><p><strong>Methods: </strong>This is an observational case report of two Chinese male siblings, born to non-consanguineous parents, presenting with severe rod-cone dystrophy seen on clinical examination, multimodal imaging, and electroretinogram. Both patients underwent targeted gene sequencing. The parents of both patients underwent targeted gene sequencing of requested variants to determine inheritance.</p><p><strong>Results: </strong>Patient 1 and 2 presented with symptoms of RCD at ages 7 and 42 years old respectively. Clinical examination, as well as imaging and electroretinogram findings were consistent with the diagnosis of RCD. Both patients were found to harbour compound heterozygous variants in the CEP78 gene, a novel loss of function mutation c.1288_1291dup (p.Pro431Glnfs *6) and a missense mutation classified as a Variant of Unknown Significance (VUS) c.830T>C (p.Leu277Pro).</p><p><strong>Conclusions: </strong>This report describes two siblings with RCD due to compound heterozygous variants in the CEP78 gene; one novel, the other currently classified as VUS. The data presented herein support the latter being reclassified as pathogenic.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"500-503"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699399","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
Hereditary cataract associated with a novel variant in WFS1. 遗传性白内障与WFS1的新变异相关。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-04-15 DOI: 10.1080/13816810.2026.2655886
Bernardo Przysiezny, Thais de Melo Baccega, Erásio de Grácia Neto, Hussein Hassan Khalil, Lucas Ferreira Cordeiro, Felipe Marques de Carvalho Taguchi, Mariana Matioli da Palma
{"title":"Hereditary cataract associated with a <i>novel</i> variant in <i>WFS1</i>.","authors":"Bernardo Przysiezny, Thais de Melo Baccega, Erásio de Grácia Neto, Hussein Hassan Khalil, Lucas Ferreira Cordeiro, Felipe Marques de Carvalho Taguchi, Mariana Matioli da Palma","doi":"10.1080/13816810.2026.2655886","DOIUrl":"10.1080/13816810.2026.2655886","url":null,"abstract":"<p><strong>Background: </strong>This study describes clinical and genetic findings of a Brazilian four-generation family with hereditary cataracts.</p><p><strong>Materials and methods: </strong>In a large family comprising 31 members, 14 individuals were identified as being affected with hereditary cataracts. Next-generation sequence was undertaken in one affected individual, and subsequent segregation analysis was conducted on his affected sister.</p><p><strong>Results: </strong>The proband presented with bilateral lamellar cataracts, while his sister had cerulean cataracts. A heterozygous variant, c.988_993del (p.Phe330_Phe331del), in the <i>WFS1</i> gene was identified. This variant is absent at ClinVar and gnomAD databases and has not been previously reported.</p><p><strong>Conclusion: </strong>The indel variant in <i>WFS1</i> was associated with a non-syndromic cataract in our Brazilian family. Further studies are necessary to elucidate the pathogenicity of this variant.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"512-516"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691399","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
Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature. 独特的视网膜表型可能支持FSCN2在遗传性视网膜变性中的致病性:一个病例报告和文献综述。
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1080/13816810.2026.2717331
Caroline L Sherman, Alexander Sumaroka, Alejandro J Roman, Alexander Hüther, Mariejel L Weber, Rebecca Kim, Alexander J Brucker, Artur V Cideciyan, Tomas S Aleman
{"title":"Unique retinal phenotype may support pathogenicity of <i>FSCN2</i> in inherited retinal degenerations: a case report and review of the literature.","authors":"Caroline L Sherman, Alexander Sumaroka, Alejandro J Roman, Alexander Hüther, Mariejel L Weber, Rebecca Kim, Alexander J Brucker, Artur V Cideciyan, Tomas S Aleman","doi":"10.1080/13816810.2026.2717331","DOIUrl":"10.1080/13816810.2026.2717331","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a peculiar retinal phenotype associated with a novel variant in <i>FSCN2</i>.</p><p><strong>Methods: </strong>The patient underwent a comprehensive ophthalmic exam, imaging with spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence and vision measured with kinetic fields and full-field electroretinography (ffERG).</p><p><strong>Results: </strong>A 67-year-old man presented with a history of blurred vision for about 20 years. Visual acuities were 20/150 in each eye. Goldmann kinetic visual fields were generally full in extent to a V-4e target, but smaller I-4e stimulus fields were limited to a remnant island of vision in the pericentral infero-nasal field that excluded fixation. There was a ceco-central oval area of pigmentary changes bilaterally that was densely hypo-autofluorescent on short-wavelength and near-infrared excitation. On SD-OCT, there was severe photoreceptor outer nuclear layer loss with steep transitions into normal‑appearing retina. ffERGs were reduced in amplitude for cone-mediated responses; rod-mediated ffERGs were within normal limits. Genetic testing revealed a missense mutation in the <i>FSCN2</i> gene (c.917A > G, p.Tyr306Cys).</p><p><strong>Conclusions: </strong>This novel variant in <i>FSCN2</i> shows a cone-rod dystrophy phenotype and a stereotypical pattern of ceco-central abnormalities reminiscent of earlier reports in patients with FSCN2-associated retinopathies, supportive of the role of FSCN2 in inherited retinal degenerations with a central predilection and of the potential pathogenicity of this FSCN2 variant.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"431-436"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148831206","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
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association. 1例由ARID1B突变引起的Coffin-siris综合征1型患者的原发性先天性青光眼:一种新的关联
IF 1 4区 医学
Ophthalmic Genetics Pub Date : 2026-10-01 Epub Date: 2026-03-30 DOI: 10.1080/13816810.2026.2652012
Margaux Ismedon, Vasily Smirnov, Aurelie Hamerstehl, Thierry T D David, Daniele Denis, Prithvi Ramtohul, Aurore Aziz
{"title":"Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.","authors":"Margaux Ismedon, Vasily Smirnov, Aurelie Hamerstehl, Thierry T D David, Daniele Denis, Prithvi Ramtohul, Aurore Aziz","doi":"10.1080/13816810.2026.2652012","DOIUrl":"10.1080/13816810.2026.2652012","url":null,"abstract":"<p><strong>Introduction: </strong>Coffin-Siris syndrome (CSS) type 1 is a rare genetic disorder characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanx, most commonly caused by pathogenic variants in the ARID1B gene.</p><p><strong>Methods: </strong>We report the first confirmed case of primary congenital glaucoma in a patient with Coffin-Siris syndrome type 1.</p><p><strong>Results: </strong>A six-month-old girl was referred for bilateral epiphora and photophobia. Ophthalmological examination revealed megalocornea, right-sided inferior corneal edema, elevated intraocular pressure (IOP), increased axial length, a non-recessed developmental iridocorneal angle, and deep optic nerve cupping, consistent with bilateral infantile primary congenital glaucoma. Genetic testing identified a heterozygous de novo pathogenic frameshift variant in ARID1B. The patient underwent bilateral non-penetrating deep sclerectomy with trabeculotomy, resulting in satisfactory IOP control over 18 months of follow-up.</p><p><strong>Conclusion: </strong>This case expands the ocular phenotype associated with CSS and highlights the importance of early ophthalmologic screening for glaucoma in affected children.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"497-499"},"PeriodicalIF":1.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581818","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
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