Ophthalmic Genetics最新文献_第9页

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. 扩大 HGSNAT 相关视网膜病变患者的表型和基因型范围。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-08-17 DOI: 10.1080/13816810.2023.2245035

Mariana Matioli da Palma, Molly Marra, Austin D Igelman, Cristy A Ku, Amanda Burr, Katherine Andersen, Lesley A Everett, Fernanda B O Porto, Juliana Maria Ferraz Sallum, Paul Yang, Mark E Pennesi

{"title":"Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.","authors":"Mariana Matioli da Palma, Molly Marra, Austin D Igelman, Cristy A Ku, Amanda Burr, Katherine Andersen, Lesley A Everett, Fernanda B O Porto, Juliana Maria Ferraz Sallum, Paul Yang, Mark E Pennesi","doi":"10.1080/13816810.2023.2245035","DOIUrl":"10.1080/13816810.2023.2245035","url":null,"abstract":"Background: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. We describe and expand the genotypic and phenotypic spectrum of this disease.Materials and methods: This is a retrospective, observational, case series of 11 patients with pericentral retinitis pigmentosa due to variants in HGSNAT gene without a syndromic diagnosis of MPSIIIC. We reviewed ophthalmologic data extracted from medical records, genetic testing, color fundus photos, fundus autofluorescence (FAF), and optical coherence tomography (OCT).Results: Of the 11 patients, the mean age was 52 years (range: 26-78). The mean age of ophthalmologic symptoms onset was 45 years (range: 15-72). The visual acuity varied from 20/20 to 20/80 (mean 20/30 median 20/20). We described five novel variants in HGSNAT: c.715del (p.Arg239Alafs *37), c.118 G>A (p.Asp40Asn), c.1218_1220delinsTAT, c.1297A>G (p.Asn433Asp), and c.1726 G>T (p.Gly576*).Conclusions: HGSNAT has high phenotypic heterogeneity. Data from our cohort showed that all patients who had at least one variant of c.1843 G>A (p.Ala615Thr) presented with the onset of ocular symptoms after the fourth decade of life. The two patients with onset of ocular symptoms before the fourth decade did not carry this variant. This may suggest that c.1843 G>A variant is associated with a later onset of retinopathy.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10012249","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

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature. PHARC 综合征--一种伴有视网膜色素变性和白内障的超罕见综合征：病例报告和文献综述。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-08 DOI: 10.1080/13816810.2023.2289449

Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates

{"title":"PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.","authors":"Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates","doi":"10.1080/13816810.2023.2289449","DOIUrl":"10.1080/13816810.2023.2289449","url":null,"abstract":"Background: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the ABHD12 gene, which encodes αβ-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have been reported in the literature.Methods: We evaluated the 25-year-old male patient referred to us due to vision loss, cataracts, and hearing loss. Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing.Results: In the genetic analysis, the patient was diagnosed with PHARC syndrome by detecting homozygous (NM_001042472.3): c.871del (p.Tyr291IlefsTer28) novel pathogenic variation in the ABHD12 gene. Following the molecular diagnosis, he was referred to the neurology department for reverse phenotyping and sensorimotor demyelinating polyneuropathy was detected in the neurological evaluation.Conclusions: In this study, we report a novel variation in ABHD12 gene in the first Turkish-origin PHARC patient. We present this study to contribute genotype-phenotype correlation of PHARC syndrome and emphasize the importance of molecular genetic diagnosis in order to determine the appropriate clinical approach. This report is essential for expanding the phenotypic spectrum in different populations and understanding the genotype-phenotype correlation of PHARC syndrome via novel pathogenic variation in the ABHD12 gene.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378078","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 analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. 土耳其人群中 ABCC8 和 KCNJ11 基因多态性与糖尿病视网膜病变的关系分析。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-27 DOI: 10.1080/13816810.2024.2317279

Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer

{"title":"An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.","authors":"Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer","doi":"10.1080/13816810.2024.2317279","DOIUrl":"10.1080/13816810.2024.2317279","url":null,"abstract":"Background: Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin secretion by glucose-stimulated pancreatic beta cells and the regulation of insulin secretion. KCNJ11 E23K (rs5219), ABCC8-3 C/T (rs1799854), Thr759Thr (rs1801261) and Arg1273Arg (rs1799859) are among the possible related single nucleotide polymorphisms (SNPs). The aim of this study is to find out how DR and these SNPs are associated with one another in the Turkish population.Materials and methods: This study included 176 patients with type 2 diabetes mellitus without retinopathy (T2DM-rp), 177 DR patients, and 204 controls. Genomic DNA was extracted from whole blood, and genotypes were determined by the PCR-RFLP method.Results: In the present study, a significant difference was not found between all the groups in terms of Arg1273Arg polymorphism located in the ABCC8 gene. The T allele and the TT genotype in the -3 C/T polymorphism in this gene may have a protective effect in the development of DR (p = 0.036 for the TT genotype; p = 0.034 for T allele) and PDR (p = 0.042 and 0.025 for the TT genotype). The AA genotype showed a significant increase in the DR group compared to T2DM-rp in the KCNJ11 E23K polymorphism (p = 0.046).Conclusions: Consequently, the T allele and TT genotype in the -3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139972889","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 ATF6 homozygous variant in a Chinese patient with achromatopsia. 一名中国无色素性眼病患者的新型 ATF6 同源变异体。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-29 DOI: 10.1080/13816810.2024.2322643

Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma

引用次数: 0

Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia. iPSC衍生的视神经发育不全模型中基因表达异常但视网膜神经节细胞发生未减少。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2024-01-26 DOI: 10.1080/13816810.2023.2253902

Jennifer G Aparicio, Hanno Hopp, Narine Harutyunyan, Carly Stewart, David Cobrinik, Mark Borchert

{"title":"Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia.","authors":"Jennifer G Aparicio, Hanno Hopp, Narine Harutyunyan, Carly Stewart, David Cobrinik, Mark Borchert","doi":"10.1080/13816810.2023.2253902","DOIUrl":"10.1080/13816810.2023.2253902","url":null,"abstract":"Background: Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth. Multifactorial developmental events are hypothesized to underlie ONH and its frequently associated neurologic and endocrine abnormalities; however, environmental influences are unclear and genetic underpinnings are unexplored. This work investigates the genetic contribution to ONH RGC production and gene expression using patient induced pluripotent stem cell (iPSC)-derived retinal organoids (ROs).Materials and methods: iPSCs produced from ONH patients and controls were differentiated to ROs. RGC genesis was assessed using immunofluorescence and flow cytometry. Flow-sorted BRN3+ cells were collected for RNA extraction for RNA-Sequencing. Differential gene expression was assessed using DESeq2 and edgeR. PANTHER was employed to identify statistically over-represented ontologies among the differentially expressed genes (DEGs). DEGs of high interest to ONH were distinguished by assessing function, mutational constraint, and prior identification in ONH, autism and neurodevelopmental disorder (NDD) studies.Results: RGC genesis and survival were similar in ONH and control ROs. Differential expression of 70 genes was identified in both DESeq2 and edgeR analyses, representing a ~ 4-fold higher percentage of DEGs than in randomized study participants. DEGs showed trends towards over-representation of validated NDD genes and ONH exome variant genes. Among the DEGs, RAPGEF4 and DMD had the greatest number of disease-relevant features.Conclusions: ONH genetic background was not associated with impaired RGC genesis but was associated with DEGs exhibiting disease contribution potential. This constitutes some of the first evidence of a genetic contribution to ONH.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10841193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41105673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of GNB3, ACE polymorphisms with POAG and NTG. GNB3、ACE多态性与POAG和NTG的关联

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2024-01-26 DOI: 10.1080/13816810.2023.2283415

Alexander N Samoylov, Polina Tumanova, Sofya A Pankratova, Liana Sh Ashryatova, Denis Plotnikov

{"title":"Association of GNB3, ACE polymorphisms with POAG and NTG.","authors":"Alexander N Samoylov, Polina Tumanova, Sofya A Pankratova, Liana Sh Ashryatova, Denis Plotnikov","doi":"10.1080/13816810.2023.2283415","DOIUrl":"10.1080/13816810.2023.2283415","url":null,"abstract":"Purpose: Primary open-angle glaucoma (POAG) represents the most prevalent form of glaucoma and stands as a foremost contributor to irreversible vision impairment on a global scale. Despite notable strides made in comprehending the genetic underpinnings of POAG, investigations within the context of Russia remain constrained.Methods: The study cohort comprised a total of 235 individuals, with 135 of them exhibiting various forms of glaucoma encompassing both POAG and (NTG, while the remaining 100 individuals served as control subjects. Each participant underwent a comprehensive ocular examination to ascertain their ocular health status. Genotyping of the relevant single nucleotide polymorphisms (SNPs) was carried out using the Taq Man genotyping assay. Specifically, the two SNPs under scrutiny were GNB3 rs5443 gene and ACE rs4646994. Statistical analysis was performed to evaluate the association of these SNPs with glaucoma risk.Results: The presence of the T allele of rs5443 was found to be associated with NTG (p = .004). However, no statistically significant correlation was identified between this SNP and POAG (p = .88).Conclusion: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138299789","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

Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant. 由双拷贝 SCAPER 框移变异引起的综合征视网膜色素变性。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-05-09 DOI: 10.1080/13816810.2023.2204359

Shaden H Yassin, Fritz Gerald P Kalaw, Alexa Li, Emily Fletcher, Shyamanga Borooah

{"title":"Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.","authors":"Shaden H Yassin, Fritz Gerald P Kalaw, Alexa Li, Emily Fletcher, Shyamanga Borooah","doi":"10.1080/13816810.2023.2204359","DOIUrl":"10.1080/13816810.2023.2204359","url":null,"abstract":"Purpose: Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused by a frameshift heterozygous mutation in SCAPER. Our case has a relatively mild ocular phenotype with the presence of cone involvement noted on full field electroretinogram (ffERG) without impacting central or color vision.Materials and methods: A 17-year-old male presented with progressive nyctalopia in both eyes. He underwent ophthalmic examination and multimodal imaging. A complete retinal degeneration panel consisting of 322 genes was used to screen for molecular causes of retinal dystrophy in this patient along with family segregation analysis.Results: Fundus examination of the proband revealed mild RP phenotype with waxy pallor of optic discs, attenuated retinal arterioles, and single bone spicule like pigmentary change in the mid-periphery bilaterally. Multimodal imaging and ffERG demonstrated a picture of RP with cone dysfunction without impacting central or color vision bilaterally. Examined family members were found to be normal. The proband was found to be heterozygous for two novel frameshift pathogenic variants in SCAPER c.3781del, p. (Val1261Serfs*26), c.868_869del, p. (Glu290Serfs*7) both leading to predicted premature termination. The family members tested were found to be heterozygous for SCAPER c.868_869del, p. (Glu290Serfs*7) pathogenic variant confirming their carrier status.Conclusion: We report a case of a syndromic RP of previously unreported ocular phenotype associated with SCAPER pathogenic variant, which will add to the phenotypic spectrum of retinopathy and systemic features associated with pathogenic variants in SCAPER.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9438522","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

Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report. AIRE 致病变体的鉴定结束了沙特婴幼儿角结膜炎患儿的诊断之谜，这是自身免疫性多腺体综合征 1 型的早期征兆；病例报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-04-05 DOI: 10.1080/13816810.2023.2196565

Muhannad Alkhalifah, Hani AlMezaine, Basamat AlMoallem

{"title":"Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.","authors":"Muhannad Alkhalifah, Hani AlMezaine, Basamat AlMoallem","doi":"10.1080/13816810.2023.2196565","DOIUrl":"10.1080/13816810.2023.2196565","url":null,"abstract":"Purpose: Chronic keratoconjunctivitis is a rare presentation of autoimmune polyglandular syndrome type 1 (APS-1) during the first year of life. Herein, We report a case of a 10-month-old baby girl with chronic bilateral keratoconjunctivitis, corneal scarring and neovascularization that was treated initially with topical immunosuppressants.Methods: Detailed ophthalmological assessment followed by molecular testing using whole exome sequencing.Results: In addition to the severe chronic bilateral keratoconjunctivitis, corneal scarring and neovascularization, patient weight was found to be low than 10th percentile. Further genetic testing revealed autoimmune regulator (AIRE) gene variant that was only reported once in the literature confirming the diagnosis of APS-1. Further workup detected hypoparathyroidism that was treated with calcium supplementation.Conclusion: Our case represents the importance of multidisciplinary services and highlights the role of genetic testing in diagnosing such syndromic cases. We reviewed previous reports and found that available treatment for ocular involvement is usually nonsatisfactory; however, early detection and referral by ophthalmologists could result in treating previously undetected endocrine disorders that can be life threatening if left untreated.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9241756","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

Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging. 常染色体隐性遗传嗜酸性粒细胞增多症的非血管源性囊样黄斑病变：近红外-FAF和OCTA成像的新发现。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-04-11 DOI: 10.1080/13816810.2023.2191711

Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Andrea Saladino, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Parodi

{"title":"Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.","authors":"Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Andrea Saladino, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Parodi","doi":"10.1080/13816810.2023.2191711","DOIUrl":"10.1080/13816810.2023.2191711","url":null,"abstract":"Background: Autosomal Recessive Bestrophinopathy (ARB) is an inherited retinal disease caused by biallelic mutations in the BEST1 gene. Herein, we report the multimodal imaging findings of ARB presenting with cystoid maculopathy and investigate the short-term response to combined systemic and topical carbonic anhydrase inhibitors (CAIs).Material and methods: An observational, prospective, case series on two siblings affected by ARB is presented. Patients underwent genetic testing and optical coherence tomography (OCT), blue-light fundus autofluorescence (BL-FAF), near-infrared fundus autofluorescence (NIR-FAF), fluorescein angiography (FA), MultiColor imaging, and OCT angiography (OCTA).Results: Two male siblings, aged 22 and 16, affected by ARB resulting from c.598C>T, p.(Arg200*) and c.728C>A, p.(Ala243Glu) BEST1 compound heterozygous variants, presented with bilateral multifocal yellowish pigment deposits scattered through the posterior pole that corresponded to hyperautofluorescent deposits on BL-FAF. Vice versa, NIR-FAF mainly disclosed wide hypoautofluorescent areas in the macula. A cystoid maculopathy and shallow subretinal fluid were evident on structural OCT, albeit without evidence of dye leakage or pooling on FA. OCTA demonstrated disruption of the choriocapillaris throughout the posterior pole and sparing of intraretinal capillary plexuses. Six months of combined therapy with oral acetazolamide and topical brinzolamide resulted in limited clinical benefit.Conclusions: We reported two siblings affected by ARB, presenting as non-vasogenic cystoid maculopathy. Prominent alteration of NIR-FAF signal and concomitant choriocapillaris rarefaction on OCTA were noted in the macula. The limited short-term response to combined systemic and topical CAIs might be explained by the impairment of the RPE-CC complex.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9652670","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

Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging. 视网膜色素上皮先天性单纯火腿肠瘤：4例多模态成像

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-05-03 DOI: 10.1080/13816810.2023.2206889

Masood Naseripour, Sara Hemmati, Seyyed Saeed Aghili, Arzhang Gordiz, Shayesteh Enayatollahi, Masomeh Daem, Fatemeh Abdi

{"title":"Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging.","authors":"Masood Naseripour, Sara Hemmati, Seyyed Saeed Aghili, Arzhang Gordiz, Shayesteh Enayatollahi, Masomeh Daem, Fatemeh Abdi","doi":"10.1080/13816810.2023.2206889","DOIUrl":"10.1080/13816810.2023.2206889","url":null,"abstract":"Background: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening.Methods: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided.Results: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole.Conclusions: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9769511","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