European Journal of Ophthalmology最新文献

Prevalence of Fovea Plana in patients with rhegmatogenous retinal detachment. 流变性视网膜脱落患者的眼窝普拉纳患病率。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-23 DOI: 10.1177/11206721241286125

Vasileia Chatzistergiou, Raphaël Lejoyeux, Sophie Bonnin, Ramin Tadayoni

{"title":"Prevalence of Fovea Plana in patients with rhegmatogenous retinal detachment.","authors":"Vasileia Chatzistergiou, Raphaël Lejoyeux, Sophie Bonnin, Ramin Tadayoni","doi":"10.1177/11206721241286125","DOIUrl":"https://doi.org/10.1177/11206721241286125","url":null,"abstract":"Purpose: To assess the prevalence of fovea plana in patients with rhegmatogenous retinal detachment and compare characteristics of the detachment between patients with and without fovea plana.Methods: This retrospective, cross-sectional, case-control study included individuals with rhegmatogenous retinal detachment. We collected demographics and data on the operated eye, spherical equivalent, best-corrected visual acuity, lens status, macula status, number of retinal holes or tears, and presence of intravitreal hemorrhage, macular hole, epiretinal membrane, posterior vitreous detachment and proliferative vitreoretinopathy. The type of surgery, the tamponade, and cataract surgery following retinal surgery were also recorded. Spectral-domain optical coherence tomography macular cubes were used to evaluate the fovea by using the Spectralis HRA-OCT device (Heidelberg Engineering, Germany). Images were graded by two different investigators and a third investigator in case of disagreement.Results: We included 204 individuals; 35 (17.2%) had fovea plana, a proportion significantly higher than in the general population (p = 0.041). Individuals with and without fovea plana did not differ in any of the characteristics mentioned above apart from posterior vitreous detachment, which was more frequent in those with than without fovea plana (p = 0.038).Conclusion: The prevalence of fovea plana is higher in patients with rhegmatogenous retinal detachment, which suggests an association between fovea plana and potential vitreoretinal interface changes.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282485","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

Long-term outcomes of eyelash-sparing surgical technique for severe segmental cicatricial entropion. 保留眼睑手术技术治疗重度节段性卡他性内翻的长期疗效。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-23 DOI: 10.1177/11206721241285066

Vidhi Anklesaria, Nneka Ogbu, Swati Singh

{"title":"Long-term outcomes of eyelash-sparing surgical technique for severe segmental cicatricial entropion.","authors":"Vidhi Anklesaria, Nneka Ogbu, Swati Singh","doi":"10.1177/11206721241285066","DOIUrl":"https://doi.org/10.1177/11206721241285066","url":null,"abstract":"Purpose: To assess the long-term outcomes of segmental entropion correction using anterior lamellar recession (ALR) with mucous membrane graft (MMG).Methods: Prospective interventional study of 16 patients (mean age, 35.3 ± 16.3 years; 10 females) with severe segmental cicatricial entropion, managed using ALR and MMG. Outcome measures include eyelid and eyelash status, changes in the ocular surface, visual acuity, and cosmetic appearance at a minimum nine months of follow-up.Results: Of 16 patients (16 eyelids), 11 had Stevens-Johnson Syndrome (SJS) and five had chemical injury. The most common location of entropion was medial (87.5%) followed by central and lateral. All patients had severe entropion with trichiatic eyelashes. Anatomical success was 87.5% (14/16) at six weeks of follow-up. Residual trichiasis was managed with a repeat ALR with MMG in one and eyelash resection in the other eyelid. The etiology-wise success rates were 90% in SJS and 80% in chemical injury. At the final mean follow-up of 14.8 months, entropion was corrected in 100% of eyelids. None of the patients had cosmetic concerns. Ocular surface symptomatology and visual acuity improved in 87.5% of patients and 40% of eyes, respectively.Conclusion: Anterior lamellar recession with lid margin mucous membrane grafting successfully repairs the severe segmental cicatricial entropion without raising any cosmetic concerns.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282483","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

The chair of diseases of the eyes and urinary bladder in the university of Naples in XVIII century and the institution of autonomous university chairs of ophtalmology in Vienna and in Naples. 十八世纪在那不勒斯大学设立眼科和膀胱疾病教席，并在维也纳和那不勒斯大学设立眼科自治教席。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-23 DOI: 10.1177/11206721241285067

Renato Jungano, Gloria Castagnolo

引用次数: 0

Retinal displacement following direct versus indirect fluid exchange in pars Plana vitrectomy for rhegmatogenous retinal detachment. 流变性视网膜脱离的旁玻璃体切除术中直接与间接液体交换后的视网膜移位。

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-19 DOI: 10.1177/11206721241286123

Fatemeh Abdi,Amin Zand,Mohammad Mirzakhan,Vahid Zarehosseinabadi,Pasha Anvari,Reza Mirshahi,Ahad Sedaghat,Mohammad Mahdi Taherian,Arzhang Gordiz,Sayyed Amirpooya Alemzadeh

{"title":"Retinal displacement following direct versus indirect fluid exchange in pars Plana vitrectomy for rhegmatogenous retinal detachment.","authors":"Fatemeh Abdi,Amin Zand,Mohammad Mirzakhan,Vahid Zarehosseinabadi,Pasha Anvari,Reza Mirshahi,Ahad Sedaghat,Mohammad Mahdi Taherian,Arzhang Gordiz,Sayyed Amirpooya Alemzadeh","doi":"10.1177/11206721241286123","DOIUrl":"https://doi.org/10.1177/11206721241286123","url":null,"abstract":"PURPOSETo compare the occurrence and characteristics of retinal displacement following direct perfluorocarbon liquid (PFCL)-silicone oil (SO) exchange versus indirect PFCL for air and air for SO exchange methods during pars plana vitrectomy (PPV) in patients with rhegmatogenous retinal detachment (RRD).METHODSA comparative case series study was conducted on 58 eyes with recent RRD, undergoing standard three-port PPV with SO tamponade. Fluid exchange was performed using either direct or indirect methods. Postoperatively, a comprehensive ophthalmic examination and fundus autofluorescence (FAF) imaging were conducted at one month. The presence, amount, and direction of retinal displacement were assessed based on FAF imaging and compared between the direct and indirect fluid exchange groups.RESULTSFAF imaging at one month revealed retinal displacement in 41.4% of eyes in the direct group and 62.1% in the indirect group, with no statistical difference between them (P = 0.537). However, the mean displacement was significantly higher in the indirect group (282.61 ± 110.83 µm) compared to the direct group (220.33 ± 39.67 µm, P = 0.04). The direction of displacement (downward or upward) did not differ significantly between the groups (P = 0.093).CONCLUSIONSWhile the occurrence and location of postoperative retinal displacement did not significantly differ between direct and indirect fluid exchange methods during PPV for RRD, eyes treated with the direct method exhibited lower mean displacement compared to the indirect method. These findings suggest potential benefits of the direct exchange approach in minimizing retinal displacement following surgery.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248078","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

Outcomes of conjunctivochalasis treatment after fornix deepening with retractor recession and repositioning. 用牵引器后退和复位法加深穹窿后的结膜睫状体病治疗效果。

IF 1.4 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-19 DOI: 10.1177/11206721241283063

Camille Yvon, Raman Malhotra

{"title":"Outcomes of conjunctivochalasis treatment after fornix deepening with retractor recession and repositioning.","authors":"Camille Yvon, Raman Malhotra","doi":"10.1177/11206721241283063","DOIUrl":"https://doi.org/10.1177/11206721241283063","url":null,"abstract":"Purpose: To evaluate outcomes of fornix deepening with retractor recession and repositioning for conjunctivochalasis (CCh) on improvement of conjunctival folds and ocular surface symptoms, particularly epiphora.Methods: Retrospective, single-centre, observational case series of patients with refractory CCh who underwent fornix deepening and retractor recession. CCh was graded using the Hoh classification (grades 0 to 3 depending on the number and height of folds). Epiphora, reflex tearing, and dry eye symptoms were assessed using the validated 'TEAR' score pre- and post-CCh correction.Results: 18 eyes of 11 patients with CCh (average age 68, range 46-82 years) were treated with fornix deepening and retractor recession. All had shallow fornices pre-operatively with a mean CCh grade of 1.7 (typically lower than the tear meniscus). Locations of the folds were variable: diffuse/middle (n = 10), nasal (n = 4), and temporal (n = 4). At 15-month mean follow-up, conjunctival redundancy was absent in 17 of 18 eyes postoperatively, resulting in a restored tear meniscus and reservoir. 91% saw a reduction in tearing frequency (T), with 73% gaining ≥ 2-point improvement. Improvements in clinical effects (E) and activity limitation (A) were seen in 82% and 91% of patients, respectively, with 36% and 64% gaining ≥ 2-point improvement. R scores (related to reflex tearing) improved in 73%, with 64% seeing ≥ 2-point gains. (P < 0.05 for all).Conclusion: Restoration of the tear reservoir by inferior fornix deepening with retractor recession and repositioning can result in improvement of CCh and epiphora.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282484","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

Benign Lobular Inner Nuclear Layer Proliferations of the retina. 视网膜良性叶状内核层增生。

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-19 DOI: 10.1177/11206721241286567

Carlos M Córdoba-Ortega,Juan D Arias Aristizabal,Maira Alexandra Gómez Velasco,Dayron F Martinez Pulgarín

{"title":"Benign Lobular Inner Nuclear Layer Proliferations of the retina.","authors":"Carlos M Córdoba-Ortega,Juan D Arias Aristizabal,Maira Alexandra Gómez Velasco,Dayron F Martinez Pulgarín","doi":"10.1177/11206721241286567","DOIUrl":"https://doi.org/10.1177/11206721241286567","url":null,"abstract":"PURPOSEReport the clinical and imaging findings of a patient with an intraretinal benign tumor that was documented as an unexpected clinical finding after an ischemic stroke in the context of mitral valve disease. This tumor must be distinguished from retinoblastoma and other malignant neoplasms.METHODSA patient with intraretinal tumor of the inner nuclear layer (INL) underwent a combination of ophthalmic examination, fundus photography, fluorescein angiography, optical coherence tomography (OCT), and optical coherence tomography angiography (OCT-A).RESULTSA 64-year-old male patient with unilateral benign tumor lesions dependent on the internal retina, centered in the posterior pole, and multifocal. OCT showed that these lesions were centered within the INL at the edge of the inner plexiform layer and were not associated with other findings in the posterior pole.CONCLUSIONSBenign Lobular Inner Nuclear Layer Proliferations (BLIP) of the Retina are recently described lesions that should be considered, given their distinctive characteristics that set them apart from other benign and malignant retinal lesions.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248082","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 histopathological evaluation in silicone oil keratopathy. 硅油角膜病的多模式成像和组织病理学评估。

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-19 DOI: 10.1177/11206721241286252

Mariantonia Ferrara,Eliana Forbice,Diego Segala,Scott Hau,Giacomo Beschi,Francesco Morescalchi,Mario R Romano,Francesco Semeraro,Vito Romano

{"title":"Multimodal imaging and histopathological evaluation in silicone oil keratopathy.","authors":"Mariantonia Ferrara,Eliana Forbice,Diego Segala,Scott Hau,Giacomo Beschi,Francesco Morescalchi,Mario R Romano,Francesco Semeraro,Vito Romano","doi":"10.1177/11206721241286252","DOIUrl":"https://doi.org/10.1177/11206721241286252","url":null,"abstract":"PURPOSETo describe features in silicone oil keratopathy using multimodal imaging and histopathological examination.METHODSCase report.RESULTA 21-year-old male developed right corneal decompensation in the heavy SO (HSO)-filled eye. The patient underwent an initial lensectomy, pars plana vitrectomy (PPV) and HSO tamponade due open-globe injury with corneal wound, lens damage and in two retained intravitreal glass foreign bodies, followed by a revisional PPV with HSO tamponade due to tractional detachment associated with proliferative vitreoretinopathy and epiretinal membrane. One month after the removal of HSO, ophthalmic examination of the right eye showed corneal decompensation. The AS-OCT showed corneal thickening, intrastromal scattered hyperreflective dots and large rounded/oval hyporeflective space; the latter were suggestive of emulsified HSO microbubbles and larger bubbles, respectively. In vivo confocal microscopy showed multiple presumed SO-related corneal changes, including hyper-reflective fibrotic changes in the basal epithelium, reduced density ans altered morphology of keratocytes cell population, increased pleomorphism and polymegathism of the endothelium with reduced endothelial cell, and presence of inflammatory cells. The patient underwent a penetrating keratoplasty, pupilloplasty and retropupillary iris-claw IOL implantation. The histopathological examination of the host corneal button showed Descemet's membrane irregularity and thickened corneal stroma with focal intrastromal silicone oil vacuoles, surrounded by macrophages.CONCLUSIONWe described for the first time intrastromal hyperreflective dots as a sign associated with SO-related keratopathy. Moreover, this case report supports the ability of emulsified SO to penetrate the cornea inducing a local low-grade chronic inflammation.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248046","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

Impact of vitreomacular interface on intravitreal Brolucizumab efficacy in age-related macular neovascularization 玻璃体黄斑界面对玻璃体内布卢单抗治疗老年性黄斑新生血管疗效的影响

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-17 DOI: 10.1177/11206721241282429

Maria Ludovica Ruggeri, Lisa Toto, Lucio Zeppa, Matteo Gironi, Alberto Quarta, Patrizio Venturoni, Agbeanda Aharrh-Gnama, Annamaria Porreca, Marta Di Nicola, Rodolfo Mastropasqua

{"title":"Impact of vitreomacular interface on intravitreal Brolucizumab efficacy in age-related macular neovascularization","authors":"Maria Ludovica Ruggeri, Lisa Toto, Lucio Zeppa, Matteo Gironi, Alberto Quarta, Patrizio Venturoni, Agbeanda Aharrh-Gnama, Annamaria Porreca, Marta Di Nicola, Rodolfo Mastropasqua","doi":"10.1177/11206721241282429","DOIUrl":"https://doi.org/10.1177/11206721241282429","url":null,"abstract":"BackgroundThis study aimed to assess the influence of vitreoretinal interface (VRI) on the outcome of Brolucizumab intravitreal injections (IVBr) in patients with age-related macular neovascularization (MNV).Methods40 eyes of 40 patients with active-naive MNV candidates to IVBr were enrolled at the Ophthalmology Clinic of the University “G. d’Annunzio,” Chieti-Pescara, Italy. Based on the VRI condition, 20 patients were included in the G0 group (without evidence of VRI alterations), whereas 20 patients were enrolled in the G1 group (with VRI abnormalities). The primary outcome measures were changes in best-corrected visual acuity (BCVA), central macular thickness (CMT), subfoveal choroidal thickness (SCT), pigment epithelial detachment presence and maximum height (PEDMH), intraretinal fluid (IRF) presence, subfoveal subretinal fluid (SSRF) presence and thickness (SSRFT), subretinal pigment epithelium fluid (SRPEF) presence and SRPEF thickness (SRPEFT).ResultsThere were no significant differences in BCVA and SCT between the two groups, although both parameters significantly changed over time (BCVA p 0.005; SCT p < 0.001). No differences in CMT and PEDMH were found between the two groups. SSRF presence showed differences between the two groups at T4 (p 0.044), and IRF presence showed significant differences over time (p 0.008) in favor of MNV eyes without VRI alterations.ConclusionsConcomitant vitreomacular interface disease alterations in eyes treated with IVBr for MNV influenced fluid presence with greater persistence of SSRF and IRF compared to MNV eyes without VRI. Nevertheless, the overall macular thickness and visual function were not significantly different between the two groups.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248079","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

Long-term prognosis of penetrating keratoplasty in a patient with limited form of Scleroderma- a case report 一名局限型硬皮病患者接受穿透性角膜移植术的长期预后--病例报告

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-14 DOI: 10.1177/11206721241284405

Venugopal Anitha, Veena Patwardhan, Meenakshi Ravindran

{"title":"Long-term prognosis of penetrating keratoplasty in a patient with limited form of Scleroderma- a case report","authors":"Venugopal Anitha, Veena Patwardhan, Meenakshi Ravindran","doi":"10.1177/11206721241284405","DOIUrl":"https://doi.org/10.1177/11206721241284405","url":null,"abstract":"PurposeTo explore the challenges of managing recurrent graft rejections in patients with Macular Corneal Dystrophy (MCD) undergoing Penetrating Keratoplasty (PKP) who also have an underlying diagnosis of Systemic Sclerosis, specifically the limited form known as CREST syndrome.MethodsThe case of a 47-year-old female diagnosed with MCD who underwent multiple PKPs over a 13 year period was reviewed. The patients treatment included extensive surgical interventions (PKPs, amniotic membrane transplatation, tarsorrhaphy) and medical management involving systemic and topical steroids and immunosuppressive therapy (Tacrolimus ointment).ResultsInitial PKP surgeries improved the patients vision, but subsequently graft rejections,both acute and chronic, required further surgical and medical interventions. Despite aggressive management, the patient experienced multiple graft failures, with the final visual outcome being significantly compromised (vision 6/60). the presence of CREST syndrome complicated the management and prognosis of graft survival.ConclusionThis case illustrates the significant impact of systemic autoimmune disorders like CREST syndrome on the prognosis of PKP in patients with MCD. It highlights the necessity for diligent systemic evaluation and possibly more aggressive immunosuppresive strategies to manage graft rejections and prolong graft survival in such complex clinical scenarios.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248132","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

Expanding the mutational and phenotypical spectrum of FHONDA syndrome 扩展 FHONDA 综合征的突变和表型谱

IF 1.7 4区医学

European Journal of Ophthalmology Pub Date : 2024-09-14 DOI: 10.1177/11206721241284072

Bruno Magalhães Teixeira, Inês Figueiredo, Miguel Raimundo, Hugo Quental, Ana Luísa Carvalho, Rufino Silva, Joaquim Murta, João Pedro Marques

{"title":"Expanding the mutational and phenotypical spectrum of FHONDA syndrome","authors":"Bruno Magalhães Teixeira, Inês Figueiredo, Miguel Raimundo, Hugo Quental, Ana Luísa Carvalho, Rufino Silva, Joaquim Murta, João Pedro Marques","doi":"10.1177/11206721241284072","DOIUrl":"https://doi.org/10.1177/11206721241284072","url":null,"abstract":"Foveal hypoplasia, optic nerve decussation, and anterior segment dysgenesis (FHONDA) is a rare recessively inherited syndrome first described in 2013. FHONDA is associated with biallelic disease-causing variants in the SLC38A8 gene, which has a strong expression in the photoreceptor layer. To date, 60 different disease-causing variants in the SLC38A8 gene have been described. In this cross-sectional case series, we included three unrelated female patients with FHONDA syndrome who presented with congenital nystagmus and decreased visual acuity from infancy. Best-corrected visual acuity was 20/100 OD and 20/60 OS for Patient 1 (P1) (72 years old); light perception OD and hand motion OS for Patient 2 (P2) (66 years old); and 20/100 OD and 20/100 OS for Patient 3 (P3) (25 years old). While normal retinal pigmentation was seen on P1 and P3, P2 presented retinal features of retinitis pigmentosa, including a pale optic nerve head, vessel thinning, and 360° dense bone spicule hyperpigmentation OU. Spectral-domain optical coherence tomography revealed grade 4 foveal hypoplasia in all patients. In P1 and P2, the novel class IV c.388 + 1G > T p.? variant in SLC38A8 was present in homozygosity; while P3 harboured the novel c.214G > C p.(Gly72Arg) variant in homozygosity, classified as class III. Thus, we expand the mutational spectrum of FHONDA by reporting two novel variants. In addition, we describe features of retinitis pigmentosa for the first time in a patient with biallelic homozygous S LC38A8 variants, thus broadening our understanding of the clinical phenotype associated with this rare syndrome.","PeriodicalId":12000,"journal":{"name":"European Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248081","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