Ophthalmic Genetics最新文献

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":"https://doi.org/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":null,"pages":null},"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":null,"pages":null},"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

Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature. 伴有脉络膜视网膜巨瘤的巴尔德-比德尔综合征：系列病例和文献综述。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-15 DOI: 10.1080/13816810.2024.2411257

Goura Chattannavar, Marina Ger, Jeyapoorani Balasubramanian, Sohini Mandal, Subhadra Jalali, Brijesh Takkar, Phattrawan Pisuchpen, Thales A C de Guimaraes, Jenina E Capasso, Srikanta Kumar Padhy, Alex V Levin

{"title":"Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.","authors":"Goura Chattannavar, Marina Ger, Jeyapoorani Balasubramanian, Sohini Mandal, Subhadra Jalali, Brijesh Takkar, Phattrawan Pisuchpen, Thales A C de Guimaraes, Jenina E Capasso, Srikanta Kumar Padhy, Alex V Levin","doi":"10.1080/13816810.2024.2411257","DOIUrl":"10.1080/13816810.2024.2411257","url":null,"abstract":"Introduction: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together.Methods: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal coloboma and review the pertinent literature.Results: We describe three unrelated patients, with variable clinical features of Bardet Biedl syndrome. None had family history of BBS or coloboma. Each carried biallelic variants in BBS1, BBS9 and TTC8 gene, respectively. Two had unilateral chorioretinal coloboma, while one had bilateral chorioretinal coloboma.Discussion: Although there may be other explanatory factors yet to be revealed, our data suggests that chorioretinal coloboma may be associated with BBS. The Hedgehog (Hh) signaling pathway, an intercellular communicator for development of the eye, is dependent on the primary cilia and plays a crucial role in the closure of the optic fissure. Both disorders therefore involve disruption of primary cilia function which may explain their association.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471637","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

Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging. 多模态视网膜成像显示的伴有血管条纹、脉络膜新生血管、萎缩和细胞外沉积的无脂蛋白血症。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-07 DOI: 10.1080/13816810.2024.2411290

Jacques Bijon, M Mahmood Hussain, Cindy L Bredefeld, Kathleen Boesze-Battaglia, K Bailey Freund, Christine A Curcio

{"title":"Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging.","authors":"Jacques Bijon, M Mahmood Hussain, Cindy L Bredefeld, Kathleen Boesze-Battaglia, K Bailey Freund, Christine A Curcio","doi":"10.1080/13816810.2024.2411290","DOIUrl":"https://doi.org/10.1080/13816810.2024.2411290","url":null,"abstract":"Purpose: Abetalipoproteinemia (ABL, MIM 200,100) is a rare autosomal recessive disorder caused by nonfunctional microsomal triglyceride transfer protein leading to absence of apolipoprotein B-containing lipoproteins in plasma and a retinitis pigmentosa-like fundus. The MTTP gene is expressed in retinal pigment epithelium (RPE) and ganglion cells of the human retina. Understanding ABL pathophysiology would benefit from new cellular-level clinical imaging of affected retinas.Methods: We report multimodal retinal imaging in two patients with ABL. Case 1 (67-year-old woman) exhibited a bilateral decline of vision due to choroidal neovascularization (CNV) associated with angioid streaks and calcified Bruch membrane. Optical coherence tomography were consistent with basal laminar deposits and subretinal drusenoid deposits (SDD).Results: Case 2 (46-year-old woman) exhibited unusual hyperpigmentation at the right fovea with count-fingers vision and a relatively unremarkable left fundus with 20/30 vision. The left eye exhibited the presence of nodular drusen and SDD and the absence of macular xanthophyll pigments.Conclusion: We propose that mutated MTTP within the retina may contribute to ABL retinopathy in addition to systemic deficiencies of fat-soluble vitamins. This concept is supported by a new mouse model with RPE-specific MTTP deficiency and a retinal degeneration phenotype. The observed range of human pathology, including angioid streaks, underscores the need for continued monitoring in adulthood, especially for CNV, a treatable condition.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381415","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

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population. 与旧教派阿米什人中 ADAMTSL4 基因 20 碱基缺失有关的眼睑外翻。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-03 DOI: 10.1080/13816810.2024.2406850

Grace Kuang, Baozhong Xin, Valerie Sency, Elias I Traboulsi, Vincent Cruz, Heng Wang

{"title":"Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.","authors":"Grace Kuang, Baozhong Xin, Valerie Sency, Elias I Traboulsi, Vincent Cruz, Heng Wang","doi":"10.1080/13816810.2024.2406850","DOIUrl":"https://doi.org/10.1080/13816810.2024.2406850","url":null,"abstract":"Background: ADAMTSL4-related eye disorder is a rare autosomal recessive disease with a wide spectrum of severity and expressivity. We describe the genotypic and phenotypic findings in a cohort of Ohio Anabaptist with a pathogenic ADAMTSL4 gene sequence variation.Methods: Patient phenotypes were gathered from clinical data. Genetic information was collected using clinical exome sequencing followed by Sanger sequencing.Results: Five patients from three Ohio Anabaptist families were determined to have a homozygous recessive ADAMTSL4 20-bp (c.767_786del) sequence variant. All five patients were found to have varying degrees of ectopia lentis and three patients presented with symptomatic lens subluxation. Average age of ectopia lentis diagnosis was 5 years (range 2-7 years). Additional features included persistent pupillary membrane and pupillary margin irregularities. The remaining two patients were asymptomatic and were found to have mild lens subluxation in adulthood, as they were examined following family genetic testing. Twenty-six heterozygous carriers were identified in a database of 1426 Ohio Old Order Amish individuals with an estimated carrier frequency of ~1:54 (allele frequency 0.91%).Discussion: This is the first study to identify an ADAMTSL4 gene mutation in the Anabaptist population. Despite sharing the same genetic mutation, patients presented with a wide range of manifestations. A portion of affected individuals likely remain undiagnosed in the Anabaptist and general populations, especially if they are asymptomatic and only have mild lens subluxation. Implementation of early genetic screenings in high-risk populations can lead to improved awareness and patient outcomes.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366070","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

Genomic alterations in retinoblastoma tumors of Argentine patients. 阿根廷视网膜母细胞瘤患者肿瘤基因组的改变。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-02 DOI: 10.1080/13816810.2024.2408371

Diana Parma, Florencia Giliberto, Irene Szijan

{"title":"Genomic alterations in retinoblastoma tumors of Argentine patients.","authors":"Diana Parma, Florencia Giliberto, Irene Szijan","doi":"10.1080/13816810.2024.2408371","DOIUrl":"10.1080/13816810.2024.2408371","url":null,"abstract":"Introduction: Retinoblastoma is initiated by inactivation of RB1 gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside RB1, are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.Aim: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development.Methods: To identify genomic variants in six retinoblastoma tumors whole exome sequencing and informatic analysis were performed.Results: RB1 was the only gene with nonsense or frameshift mutations. SNVs in other 11 genes were missense and at non-canonical splice-sites, all nonpathogenic. CNVs, similar to those reported, were identified in all retinoblastoma tumors. The most frequent were 1q gain and 16q loss. Additionally, deletions were identified on 13q, including RB1 gene, and on the X chromosome, including BCOR gene, the most frequently mutated, after RB1, in retinoblastoma. The number of CNVs detected in each tumor was between 1 and 7, depending on the age at diagnosis.Conclusion: The analysis of genomic alterations in retinoblastoma is useful to understand the severity of tumor progression and to apply appropriate treatments.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361873","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":null,"pages":null},"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":null,"pages":null},"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

Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome. 三名 Alagille 综合征患者的视网膜内出血和详细视网膜表型。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-10-01 Epub Date: 2024-07-02 DOI: 10.1080/13816810.2024.2362214

Christine Law, Niveditha Pattathil, Hailey Simpson, Michael J Ward, Shaun Lampen, Binita Kamath, Tomas S Aleman

{"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":"Purpose: To explore patterns of disease expression in Alagille syndrome (ALGS).Methods: 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.Results: The proband (P1) had a heterozygous pathogenic variant in JAG1; (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 JAG1 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.Conclusion: 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.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"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}

引用次数: 0