Documenta Ophthalmologica最新文献

{"title":"Editorial (volume 153, issue 1): focus on clinical evaluation of vision.","authors":"Daphne L McCulloch","doi":"10.1007/s10633-026-10142-6","DOIUrl":"10.1007/s10633-026-10142-6","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"1"},"PeriodicalIF":2.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148812195","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}

{"title":"Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.","authors":"Fengxia Yao, Yamei Li, Xing Wei, Weimin Zhang, Yunyu Zhou, Yue Liu, Xuan Zou, Ruifang Sui","doi":"10.1007/s10633-025-10072-9","DOIUrl":"10.1007/s10633-025-10072-9","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis.</p><p><strong>Methods: </strong>The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence tomography (OCT), and fundus autofluorescence (FAF), to monitor disease progression. Trio-based whole-exome sequencing (WES) was performed on the family. Variant confirmation was conducted via Sanger sequencing. To support the genetic findings, leukocyte α-mannosidase activity was measured using fresh peripheral blood samples.</p><p><strong>Results: </strong>At first presentation, BCVA was 20/50 OD and 20/40 OS. Over the next decade, vision progressively declined to 20/200 in both eyes. Fundus images showed granular pigment mottling in the posterior pole, and subsequent wide-angle imaging detected bone-spicule pigmentation deposits in peripheral retina. OCT demonstrated progressive retinal thinning, with loss of the ellipsoid zone. FAF revealed expanding areas of retinal atrophy. The patient has presented with bilateral sensorineural hearing loss, delayed speech development, persistent dysarthria, mild cognitive impairment, and coarse facial features since childhood. Genetic analysis identified a novel homozygous MAN2B1 mutation: c.1316_1327delinsTGATG (p.Ala439Valfs*36), inherited from consanguineous parents with the same heterozygous genotypes. The variant was classified as pathogenic based on ACMG criteria. The patient's leukocyte α-mannosidase activity was profoundly decreased, confirming the diagnosis.</p><p><strong>Conclusions: </strong>This case highlights the progressive nature of retinal degeneration in α-mannosidosis and underscores the diagnostic value of leukocyte enzyme testing alongside genetic and ophthalmic assessments. Early recognition of ophthalmic signs, particularly in patients with syndromic features such as hearing loss and facial dysmorphism, is essential for timely diagnosis and intervention.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"107-114"},"PeriodicalIF":2.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145965804","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}

{"title":"Progressive cone dystrophy in PDE6C-associated achromatopsia with a likely pathogenic variant and a VUS.","authors":"Mia O'Connell, Jian Kong, Megan Soucy, Scott E Brodie, Stephen H Tsang","doi":"10.1007/s10633-026-10136-4","DOIUrl":"https://doi.org/10.1007/s10633-026-10136-4","url":null,"abstract":"<p><strong>Purpose: </strong>To report the clinical phenotype, multimodal imaging findings, and electrophysiologic characteristics of a 62-year-old patient with achromatopsia harboring two heterozygous PDE6C (NM_006204.3) variants: a variant of uncertain significance, c.2248G > C (p.Asp750His), and a likely pathogenic variant, c.2304_2305delAA (p.Asp770Ter).</p><p><strong>Methods: </strong>The patient underwent comprehensive ophthalmic evaluation, including best-corrected visual acuity (BCVA), slit-lamp examination, dilated fundus examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinography (ffERG) according to ISCEV standards. Genetic testing was performed using whole-exome sequencing (WES).</p><p><strong>Results: </strong>BCVA was 20/300 in both eyes at the most recent visit. Ten months earlier, BCVA was 20/150 in the right eye and 20/100 in the left eye. Fundus examination demonstrated bilateral central macular atrophic lesions with corresponding autofluorescence abnormalities. SD-OCT revealed irregular attenuation and focal loss of the ellipsoid zone with relative preservation of the retinal pigment epithelium. ffERG showed severe cone dysfunction, characterized by markedly reduced light-adapted single-flash responses and near-extinguished 30 Hz flicker responses, with relatively preserved rod-mediated scotopic responses. Genetic testing identified two heterozygous PDE6C variants: a likely pathogenic frameshift variant (c.2304_2305delAA; p.Asp770Ter), predicted to result in premature truncation of the protein, and a missense variant (c.2248G > C; p.Asp750His) located in the catalytic phosphodiesterase domain, not previously reported, and currently classified as a variant of uncertain significance.</p><p><strong>Conclusions: </strong>This case expands the phenotypic spectrum of PDE6C-associated retinal disease by describing a severe cone dysfunction phenotype with clinical features consistent with achromatopsia. In the context of an autosomal recessive condition, the presence of a likely pathogenic variant alongside a variant of uncertain significance, combined with a consistent clinical and electrophysiologic phenotype, supports a possible biallelic disease mechanism. These findings contribute to emerging genotype-phenotype correlations and may aid in interpreting rare PDE6C variants.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148618788","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}

{"title":"Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.","authors":"Caroline Atef Tawfik, Maged Maher Roshdy","doi":"10.1007/s10633-026-10135-5","DOIUrl":"https://doi.org/10.1007/s10633-026-10135-5","url":null,"abstract":"<p><strong>Background: </strong>Genetic eye diseases (GED) are among the top ten leading causes of global blindness. Ophthalmic genetics has emerged as a dedicated subspecialty, integrating clinical and genetic diagnosis with genetic counseling.</p><p><strong>Methods: </strong>We conducted an electronic and physical medical records search for the patients attending the clinics. Clinical data included patient demographics, presenting complaint, physical exam findings, best-corrected visual acuity (BCVA), available ophthalmic and diagnostic radiology imaging, and genetic testing results.</p><p><strong>Results: </strong>Electronic medical records of 499 patients were examined; 472 patients were diagnosed with GED. The mean age was 22.7 years. Males represented 57.1% of the patients. The most common diagnosis was isolated retinitis pigmentosa (32.2%), followed by Stargardt disease (11.0%), early-onset severe retinal dystrophy (10.3%), cone dystrophy (7.1%), cone-rod dystrophy (4.7%), autosomal recessive bestrophinopathy (3.6%), and enhanced S-cone syndrome (3.1%). The mean BCVA was 6/48, where 42% exhibited moderate to severe visual impairment, and 24% were classified as blind. Genetic tests were done for 28.8% of the GED patients with a molecular solving rate of 87.5%. Positive cases encompassed 47 genes; the most common were ABCA4 (11.8%), CRB1 (10.1%), BEST1 (8.4%), and NR2E3 (5.9%). Systemic associations were reported by 12.7%. Within this group hearing loss was the most common association encountered (45%), followed by intellectual disability (16.7%), and polydactyly (15%).</p><p><strong>Conclusion: </strong>This study provides a comprehensive overview of the encountered GEDs spectrum. The data are valuable for refining clinical diagnoses, establishing accurate inheritance patterns, informing family planning, and assessing patient eligibility for emerging gene-targeted therapies.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583757","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}

{"title":"Abstracts of the 63rd Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2026), Sydney, Australia.","authors":"","doi":"10.1007/s10633-026-10133-7","DOIUrl":"10.1007/s10633-026-10133-7","url":null,"abstract":"","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148561013","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}

{"title":"Electronegative ERG in association with probable TRPM1-related cancer associated retinopathy: a case report.","authors":"Ryunosuke Watanabe, Tadashi Yokoi, Takanobu Kikuchi, Makoto Inoue, Hiroshi Keino","doi":"10.1007/s10633-026-10132-8","DOIUrl":"https://doi.org/10.1007/s10633-026-10132-8","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a patient with electronegative ERGs in association with probable TRPM1-related cancer associated retinopathy.</p><p><strong>Methods: </strong>A 67-year-old female presented with progressive visual disturbances, including night blindness, cloudy vision, color vison problems, and scotomas. Initial ophthalmic examination revealed mild retinal vasculitis and an epiretinal membrane in one eye. Visual acuity was bilaterally normal. Electroretinography (ERG) showed electronegative waveforms. Subsequent systemic investigation revealed a lung mass, later confirmed to be a small cell carcinoma, with metastases. Western blot analysis and immunohistochemistry were performed. The patient received cisplatin and etoposide chemotherapy, and sub-Tenon triamcinolone injections (STTA).</p><p><strong>Results: </strong>ERGs showed an electronegative waveform with features suggesting pan-retinal loss of On-bipolar cell function. Serum Western blot analysis and immunohistochemistry identified anti-retinal autoantibodies to TRPM1 with binding specificity to the C-terminal region. Further systemic evaluation detected a lung mass, which was later confirmed as small cell lung cancer with metastases. Although initial visual field deterioration was noted, subsequent follow-up showed almost total improvement in visual function, including ERG recovery. Best-corrected visual acuity remained stable at 20/20. Despite the ocular improvements, the patient succumbed to her systemic illness 29 months after the initial visit.</p><p><strong>Conclusion: </strong>Electronegative ERGs are unusual in CAR, which usually affects photoreceptor function. This case, associated with anti-retinal autoantibodies to TRPM1, highlights the need for full systems review in a patient with possible paraneoplastic disease, even in the absence of systemic symptoms.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469512","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}

{"title":"Selective i-wave attenuation in unilateral high myopia.","authors":"Anett Porempovics, Mirella T S Barboni, Sára Makhoul, Mariann Fodor, Noémi Széll","doi":"10.1007/s10633-026-10128-4","DOIUrl":"10.1007/s10633-026-10128-4","url":null,"abstract":"<p><strong>Significance: </strong>Bipolar cell activity plays a crucial role in myopia development. The light-adapted electroretinogram has its photoreceptoral (a-wave) and post-receptoral (mainly b-wave) origins with a later i-wave component primarily representing the activation of the OFF-bipolar cells. It has been proposed that retinal OFF-pathway alteration may contribute to the development of myopia. Therefore, elucidating specific electroretinography (ERG) changes in individuals with unilateral high myopia (UHM) could contribute to understand the underlying pathomechanisms of myopia development and devise targeted treatment options.</p><p><strong>Purpose: </strong>This study aimed to compare light-adapted ERG waveforms between low-myopic/emmetropic and highly myopic eyes in patients with UHM eyes sharing an identical genetic blueprint. The subsequent comparison of the responses between highly myopic and healthy fellow eyes aimed to investigate possible photoreceptoral and/or post-receptoral pathway alterations that may play a role in myopic refractive errors.</p><p><strong>Methods: </strong>Ophthalmological and electrophysiological examinations were carried out in four individuals with UHM [mean interocular difference in spherical equivalent : 10.12 ± 2.7 (7 -13.5) D]. ISCEV standard light-adapted electroretinograms were recorded from both eyes using LKC RETeval® portable ERG unit and DTL electrodes under pupil dilation.</p><p><strong>Results: </strong>The results showed comparable a- and b-wave amplitudes with consistently reduced i-wave amplitudes in the highly myopic eyes compared to the lower- or non-myopic fellow eyes.</p><p><strong>Conclusion: </strong>These findings suggest that, beyond genetic susceptibility and in the absence of overt unilateral ocular pathology, additional modulatory influences may contribute to the localized retinal regulatory mechanisms. Moreover, the i-wave appears to be a promising electrophysiological biomarker capable of detecting subtle alterations in retinal signaling, with potential implications for elucidating myopia pathogenesis and guiding targeted therapeutic development.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435653","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}

{"title":"Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.","authors":"Yunsheng Qiao, Chen Tan, Yinuo Wen, Xinghuai Sun, Jihong Wu, Junyi Chen","doi":"10.1007/s10633-026-10127-5","DOIUrl":"https://doi.org/10.1007/s10633-026-10127-5","url":null,"abstract":"<p><strong>Purpose: </strong>We describe a case of a 4-year-old Chinese girl who presented with elevated intraocular pressure (IOP), and foveal retinoschisis (FRS) in both eyes, which was later diagnosed as CRB1-associated retinopathy.</p><p><strong>Methods and results: </strong>Ultrasound biomicroscopy demonstrated shallow anterior chamber, angle closure, anterior insertion of iris and anteriorly positioned ciliary body. The patient received laser peripheral iridotomy and topical medications for ocular hypertension and macular oedema. Longitudinal follow-up over 2 years revealed improved visual acuity, and effective IOP control. However, the FRS continued to progress. Genetic screening confirmed a novel copy number loss and a pseudo-homozygous c.4207G > C (p.Glu1403Gln) variant of the CRB1 gene.</p><p><strong>Conclusions: </strong>This case underscores the importance of comprehensive ophthalmologic examination and genetic testing in young patients with primary angle closure. In addition, the patient's hemizygous state for the CRB1 gene provides a unique opportunity to establish a genotype-phenotype association between the c.4207G > C (p.Glu1403Gln) variant and maculopathy as well as elevated IOP.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367485","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}

{"title":"Bilateral perifoveal macular ischemia in non-proliferative Duchenne muscular dystrophy-associated retinopathy: a case report.","authors":"Rodrigo Hideharo Sato, Mirella Barboni, Gustavo Sakuno, Alódia Brasil, Sarah Leonardo Dias, Edmar Zanoteli, Dora Fix Ventura, Leandro Cabral Zacharias","doi":"10.1007/s10633-026-10125-7","DOIUrl":"https://doi.org/10.1007/s10633-026-10125-7","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the first reported case of non-proliferative Duchenne muscular dystrophy-associated retinopathy manifested as bilateral perifoveal ischemia.</p><p><strong>Methods: </strong>This observational case report details a 21-year-old male with genetically confirmed Duchenne muscular dystrophy (DMD) who presented with bilateral visual decline. A comprehensive ophthalmic evaluation was performed including best-correct visual acuity (BCVA) assessment, slit-lamp biomicroscopy, dilated fundus examination, full-field and multifocal electroretinography (ERG) in accordance with ISCEV standards and ERGs to sawtooth modulation, structural spectral-domain optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in both eyes.</p><p><strong>Results: </strong>BCVA was 20/40 in both eyes. Anterior segment examination revealed bilateral posterior subcapsular cataracts, while dilated fundoscopic examination was unremarkable. Multifocal ERG demonstrated reduced amplitudes in the central and parafoveal rings, indicating localized retinal dysfunction. OCTA disclosed bilateral, irregular enlargement of the foveal avascular zone consistent with perifoveal ischemia. These vascular abnormalities corresponded to the areas of inner retinal thinning with secondary outer nuclear layer expansion in structural OCT.</p><p><strong>Conclusion: </strong>DMD-associated retinopathy may present with retinal ischemia in the absence of overt fundoscopic abnormalities. Multimodal structural and functional modalities including multifocal ERG, OCT and OCTA may be critical to the early detection of subclinical ischemic changes and for identifying patients at risk of progression to proliferative retinopathy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148350994","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}

{"title":"Association between dynamic pupil parameters and corneal sub-basal nerve plexus morphology.","authors":"Wenyan Zhou, Zhiyu Zhang, Haozhe Yu, Jingyi Li, Renxu Li, Zhongqiang Yao, Xiaojun He, Yun Feng","doi":"10.1007/s10633-026-10126-6","DOIUrl":"https://doi.org/10.1007/s10633-026-10126-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the association between dynamic pupillometry parameters and in vivo confocal microscopy (IVCM)-derived corneal sub-basal nerve morphology in patients with immune-related dry eye disease.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on 28 patients with immune-related dry eye disease (DED). Corneal sub-basal nerve morphology, including corneal nerve fiber length density (CNFL), intensity, and tortuosity, was quantified using IVCM. Dynamic pupillary light reflexes, including pupil size diameter and constriction/dilation velocities, were measured via automated pupillometry. Correlation and multivariate regression analysis were employed to determine the independent associations between structural nerve metrics and functional pupillary parameters.</p><p><strong>Results: </strong>Significant positive correlations were observed between CNFL and baseline pupil size, recovery pupil size, and total contraction and dilation time. Multivariate regression confirmed that CNFL remained an independent predictor of baseline pupil diameter after adjusting for age and gender.</p><p><strong>Conclusion: </strong>Structural rarefaction of the corneal sub-basal nerves is closely mirrored by functional impairments in pupillary dynamics. Dynamic pupillometry may provide complementary functional information associated with corneal nerve alterations in patients with immune-related DED.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148337508","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}