Documenta Ophthalmologica最新文献

{"title":"Diagnostic accuracy of B scan ultrasound for posterior segment ocular disorders: a meta-analysis.","authors":"Fujin Wu, Qing Wang, Tongmei Zheng, Xiuchun Wang, Chaobin Lin","doi":"10.1007/s10633-025-10005-6","DOIUrl":"10.1007/s10633-025-10005-6","url":null,"abstract":"<p><strong>Purpose: </strong>B-scan ultrasound is widely utilized for diagnosing posterior segment ocular disorders due to its non-invasive nature and ability to provide real-time imaging. This meta-analysis evaluates the diagnostic accuracy of B-scan ultrasound in detecting various posterior segment ocular disorders.</p><p><strong>Methods: </strong>A comprehensive search was conducted across multiple databases including Medline, EMBASE, Cochrane Library, and SCOPUS, from their inception until May 2024. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was employed to assess the risk of bias in the included studies. A bivariate meta-analysis was performed to calculate pooled estimates of sensitivity, specificity, and other diagnostic performance measures. Statistical analyses were conducted using STATA 14.2, which included generating summary receiver operating characteristic curves and diagnostic odds ratios.</p><p><strong>Results: </strong>Ten studies met the inclusion criteria, encompassing a total of 1,617 reference-tested units. The pooled sensitivity and specificity of B-scan ultrasound for diagnosing posterior segment ocular disorders were remarkably high at 96% (95% CI 91-98%) and 94% (95% CI 87-98%), respectively. The diagnostic odds ratio was 363 (95% CI 94-1406), indicating substantial diagnostic accuracy. The area under the curve (AUC) was 0.99, confirming the excellent capability of B-scan ultrasound. Notable heterogeneity was observed (I² = 86%), and no significant publication bias was detected.</p><p><strong>Conclusion: </strong>B-scan ultrasound demonstrates high sensitivity and specificity in diagnosing posterior segment ocular disorders, confirming its utility as a reliable diagnostic tool in clinical practice.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"73-85"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794397","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":"Relatively preserved retinal function in RPE65-associated retinopathy: a case report.","authors":"Kei Mizobuchi, Takaaki Hayashi, Shuhei Kameya, Yuri Ohta, Kohei Kuribayashi, Kei Shinoda","doi":"10.1007/s10633-025-10007-4","DOIUrl":"10.1007/s10633-025-10007-4","url":null,"abstract":"<p><strong>Purpose: </strong>RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to previous cases.</p><p><strong>Case presentation: </strong>A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30 min and 24 h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C > T, p.Arg515Trp)] and a novel variant [c.462G > T, (p.Lys154Asn)] in the compound heterozygous state in the RPE65 gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA 3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery of amplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in the RE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were also reduced in amplitude in BE.</p><p><strong>Conclusions: </strong>Our findings suggest that RPE65-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"97-104"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457163","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":"Unilateral best vitelliform macular dystrophy- a case series.","authors":"Dhanashree Ratra, Abhishek Karra","doi":"10.1007/s10633-025-10008-3","DOIUrl":"10.1007/s10633-025-10008-3","url":null,"abstract":"<p><strong>Purpose: </strong>To report 2 cases with unilateral Best vitelliform macular dystrophy (VMD) and describe their multimodal investigations findings.</p><p><strong>Methods: </strong>Two patients in their fifties who were misdiagnosed as central serous chorioretinopathy were carefully evaluated using multimodal imaging and electrooculography (EOG) investigations.</p><p><strong>Results: </strong>Both patients showed neurosensory elevation at the macula in one eye only leading to reduced vision. The optical coherence tomography showed subretinal hyperreflective material lining the undersurface of the elevated retina with thinning of the overlying photoreceptor layer. There was no choroidal thickening or pachy vessels. There was no leakage seen on fluorescein angiography nor any choroidal hyperpermeability on indocyanine green angiography. There was no choroidal neovascular membrane noted. The left eye was clinically unaffected for both. The EOG showed a reduced light peak to dark trough (LP:DT) ratio in both the eyes of these patients confirming the diagnosis of Best VMD. No change was seen in the eye condition over 2 years.</p><p><strong>Conclusions: </strong>Best VMD can present in unilateral fashion in rare instances. EOG can be confirmatory along with genetic testing. It can be misdiagnosed as CSCR where multimodal imaging and EOG can help differentiate it as Best VMD.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"111-116"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482425","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":"Sequential central retinal artery occlusion in two brothers: a fight to prevent blindness.","authors":"David Oliver-Gutierrez, Olaia Subirà, Ana Zabalza, Bernat Boy, Joana Marques-Soares, Miguel Ángel Zapata","doi":"10.1007/s10633-025-10006-5","DOIUrl":"10.1007/s10633-025-10006-5","url":null,"abstract":"<p><strong>Importance: </strong>Central retinal artery occlusion (CRAO) is typically associated with older patients with cardiovascular risk factors. However, its occurrence in younger patients without these risk factors suggests the need to explore rare genetic conditions. Identifying genetic disorders like adenosine deaminase 2 deficiency (DADA2), a vasculitic disease, can be critical in such cases to prevent further complications.</p><p><strong>Objective: </strong>To report the challenging diagnosis of two cases of CRAO in brothers under the age of 40, leading to the diagnosis of DADA2, a rare genetic vasculitic disorder.</p><p><strong>Results: </strong>A 34-year-old man and his 32-year-old brother, both without significant medical histories, presented with CRAO eight years apart. Extensive diagnostic evaluations, including blood tests, imaging, and autoimmunity panels, failed to identify common causes. Progressive neurological symptoms in the older brother and the similar presentation in his sibling led to further investigation, including genetic testing. A homozygous mutation c.752C > T p.(Pro251Leu) in the CECR1 gene confirmed the diagnosis of DADA2 in both brothers.</p><p><strong>Conclusion: </strong>These cases underscore the importance of considering genetic disorders like DADA2 in young patients presenting with unexplained vascular occlusions. DADA2, characterized by vasculitis, immune dysregulation, and hematologic disorders, can manifest variably, complicating early diagnosis. Effective treatment with TNF inhibitors can prevent further vision loss and mitigate systemic complications. To our knowledge, these are the first reported cases of DADA2 with CRAO as the initial manifestation without prior clinical findings.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"105-110"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397857","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":"Multi-channel pattern VEPs with full and half field stimulation: methods of interpretation and diagnostic evaluation.","authors":"Dorothy A Thompson, Oliver R Marmoy, Joanne Cowe, Siân E Handley","doi":"10.1007/s10633-025-10012-7","DOIUrl":"10.1007/s10633-025-10012-7","url":null,"abstract":"<p><strong>Aim: </strong>To describe methods of evaluating multichannel full and half field pattern VEPs using the ISCEV VEP Standard montage.</p><p><strong>Methods: </strong>The dependence of full field and half field pattern VEPs on retinal areas and cortical generators is reviewed and applied to the interpretation and evaluation of multichannel half field pattern VEPs.</p><p><strong>Results: </strong>There are predictable differences in the trans-occipital distributions of components of monocular full, and half field, pattern-reversal and full field, onset-offset VEPs. In combination, the differing distribution and dependence of these components on foveal and macular fields can help to identify and localise chiasmal and retro-chiasmal dysfunction and distinguish this from trans-occipital distribution due to individual variations of cortical architecture. A decision tree synthesising published evidence and current practice is suggested to guide interpretation of trans-occipital VEP distributions.</p><p><strong>Conclusion: </strong>The routine application of two additional lateral channels to acquire multichannel VEPs is quick, easy and adds clinical diagnostic value. The combination of full and half field pattern-reversal and fullfield, onset-offset VEPs can help evaluate chiasmal and retro-chiasmal visual pathway function, and minimise false positive interpretation of asymmetric VEP distributions, which may be due to cortical architecture or cranial anatomy alone.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"87-95"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699976","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}

{"title":"Hilbert transform analysis of the mouse scotopic electroretinogram reveals two distinct bursts of oscillatory potentials with progressively dimmer flashes.","authors":"Mercedes Gauthier, Anna Polosa, Jean-Marc Lina, Pierre Lachapelle","doi":"10.1007/s10633-025-10002-9","DOIUrl":"10.1007/s10633-025-10002-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Purpose: &lt;/strong&gt;Study the scotopic oscillatory potentials (OPs) in mice over a wide range of flash luminance levels using the Hilbert transform (HT) to extract new features of the high frequency components of the electroretinogram (ERG).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Scotopic ERGs [Intensity: - 6.3 to 0.9 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt;; 12 h of dark-adaptation] were obtained from adult mice (C57BL/6; n = 7). The Hilbert transform (HT) was obtained within 3 consecutive frequency bands (65-90 Hz, 90-115 Hz and 115-140 Hz), with OPs being denoised, automatically identified and analyzed. Measurements included: number of OPs, duration of the OP response, surface-under-the-curve (SUC) of the HT envelopes, implicit times, and instantaneous frequency at the HT envelope peak, mean peak time differences (PTD) between the envelopes of each frequency band (measuring their synchrony), correlation coefficient and lag between consecutive HT envelopes, as well as the number of peaks on the HT envelopes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The OP response duration, number of OPs and PTD all peaked for flashes between the level corresponding to the RodVmax (maximal b-wave amplitude of the rod ERG; i.e., the first asymptote of the scotopic luminance-response curve) and K (the flash luminance at which the amplitude of the b-wave is half of that of the RodVmax;), i.e., between -3.9 and -2.4 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt;. The correlation between consecutive envelopes is close to 1 at flashes &gt; -1.2 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt;, with small lags (min. = 1.93 ± 0.45 ms at - 1.2 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt;), then gradually drops to 0.81 ± 0.02 at the dimmest flash intensity (with a max. lag = 14.76 ± 8.92 ms at - 5.1 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt;). Finally, we found that the single OP burst (i.e., a single HT envelope peak) seen at flash intensities &gt;  - 1.2 log cd∙s∙m&lt;sup&gt;-2&lt;/sup&gt; progressively divided in two (or more) OP bursts (i.e., multiple HT envelope peaks) with gradually dimmer flashes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Our HT method enabled the analysis of the OP response without the subjective interpretation of the experimenter. Analysis of the scotopic OPs at dim flashes with the HT revealed a novel feature of the OP response not yet reported elsewhere, namely: a split of the OP response into two (or more) distinct bursts. Furthermore, the synchrony peak (measured with the PTD) matched the peak in OP response duration between K and RodVmax, suggesting a disorganization (or dephasing) of the retinal signal in ERGs evoked for weaker flashes. The increased synchronization and correlation of the single burst observed for the strongest flashes could suggest an optimization or saturation of the retinal response. We believe that these novel features of the OP components of the ERG went unnoticed given that previous studies did not use weak enough flashes and failed to recognize the added value that time and frequency domain analysis of the ERG (such as what is achieved with the HT) ","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"1-15"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058379","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":"Brief report: effects of methylphenidate on the light adapted electroretinogram.","authors":"Paul A Constable, David H Skuse, Dorothy A Thompson, Irene O Lee","doi":"10.1007/s10633-024-10000-3","DOIUrl":"10.1007/s10633-024-10000-3","url":null,"abstract":"<p><strong>Purpose: </strong>To explore changes in the electroretinogram (ERG) following methylphenidate use in attention-deficit/hyperactivity disorder (ADHD).</p><p><strong>Methods: </strong>Light adapted ERGs were recorded in five individuals (3 male and 2 female, age range 13.6-21.8 years) with a diagnosis of ADHD. Six flash strengths ranging from 71 to 446 Td.s were qualitatively evaluated following a minimum of 24 h without any medication and from 2 to 6 h following the individuals' standard slow-release (XL) methylphenidate dose that ranged from 18 to 60 mg.</p><p><strong>Results: </strong>Of the six flash strengths, the 178 Td.s strength revealed changes in four of the five participants with a median 27.4% increase in b-wave amplitude. For three individuals there was an increase in the a-wave amplitude and for two of the same individuals there was also a noticeable pronouncement of the oscillatory potentials. The a-wave amplitude showed a greatest median increase at the 446 Td.s flash strength of 25.8%. One individual - on the highest dose (60 mg) exhibited no morphologically distinct changes in the ERG. No differences in the time to peaks of the a- and b-wave were observed for any individual.</p><p><strong>Conclusion: </strong>The a- and b-wave amplitudes of the light adapted ERG could provide insights into the effect of methylphenidate in ADHD.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"25-32"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827906","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":"Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.","authors":"Vannessa Leung, James G Wong, John R Grigg","doi":"10.1007/s10633-024-09999-2","DOIUrl":"10.1007/s10633-024-09999-2","url":null,"abstract":"<p><strong>Purpose: </strong>Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.</p><p><strong>Methods: </strong>To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.</p><p><strong>Conclusion: </strong>A number of additional considerations need to be recognised when treating PDR in Kearns-Sayre syndrome. Given the risk of further visual field losses with panretinal photocoagulation, there should be a preference for primary anti-VEGF therapy in a compliant patient. PDR in inherited retinal disease appears to be very anti-VEGF responsive and may not require the standard monthly frequency of treatment, even from initiation.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"41-46"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892122","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":"Comparison of functional, structural and vascular characteristics between dominant and nondominant eyes.","authors":"Mualla Hamurcu, Burcu Polat Gültekin, Melisa Tuncer Göçmen, Zarife Nurbanu Mendi","doi":"10.1007/s10633-024-10001-2","DOIUrl":"10.1007/s10633-024-10001-2","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to compare retinal and optic disc functions as well as vascular structures in dominant eyes (DE) and non-dominant eyes (NDE) among healthy adults using pattern electroretinogram (PERG), optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) tests.</p><p><strong>Methods: </strong>Seventy-two eyes of 36 healthy subjects with bilateral visual acuity of 1.0 were included. Parameters such as intraocular pressure (IOP), cycloplegic spherical equivalent value (SE), PERG, retinal nerve fiber layer (RNFL) thicknesses and OCTA measurements were evaluated. Ocular dominance was determined using the hole-in-the-card test.</p><p><strong>Results: </strong>Of the participants, 67% were female, with a median age of 28 (min-max.18-35) years. Right eye dominance was observed in 61.2% of cases, while left eye dominance was seen in 38.8%. There was no significant difference in refractive values between eyes with right and left eye dominance (0.60 ± 0.40 and 0.41 ± 0.28, p = 0.42). The dominant eyes showed significantly higher P50 amplitude (10.2 µV vs. 9.2 µV, p = 0.003) and shorter peak time (47.9 ms. vs. 48.6 ms, p = 0.01) when compared to the nondominant eyes. There were comparable values in the peak times and amplitudes of the N95 component between the dominant and nondominant eyes. The RNFL layer was thicker on average (p, 0.001) as well as in the nasal and inferior quadrants of the dominant eyes (p < 0.05). OCTA analysis revealed no significant differences in the peripapillary and macular capillary vascular densities between dominant and nondominant eyes (p > 0.05), except for the deep whole capillary density in the macula, which was significantly higher in the dominant eyes (p = 0.02).</p><p><strong>Conclusion: </strong>Our results indicate the existence of functional and structural relationships related to ocular dominance. Future studies provide further insights into ocular dominance and its relationship with eye structure.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"17-23"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902706","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":"Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.","authors":"Lijin Wen, Yuwen Liu, Zhengwei Yang, Shuping Mei, Yijing Xin, Shiying Li","doi":"10.1007/s10633-024-09998-3","DOIUrl":"10.1007/s10633-024-09998-3","url":null,"abstract":"<p><strong>Purpose: </strong>To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visual impairments.</p><p><strong>Methods: </strong>The patient, a 5-year-old male, underwent comprehensive clinical evaluation, including detailed anterior segment and fundus examinations, full-field electroretinogram (ffERG) using a RETeval™ portable device, and whole exome sequencing (WES) to elucidate the genetic basis of his visual impairment. Structural modeling of the mutated protein was performed using SWISS-MODEL and PYMOL.</p><p><strong>Results: </strong>Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segment and fundus examinations. FFERG revealed significant abnormalities consistent with incomplete CSNB: severely reduced rod response in dark-adapted (DA) 0.01, negative waveform with b/a wave ratio < 1.0 in DA 3.0, and diminished cone response in light-adapted ERG. WES identified a novel pathogenic variant in the CACNA1F gene (c.1234G > T, p.E412*), inherited maternally. This variant introduces a premature stop codon at position 412, likely resulting in a truncated CACNA1F protein.</p><p><strong>Conclusions: </strong>This case highlights the importance of comprehensive clinical assessments and genetic testing in pediatric patients with unexplained visual impairments, revealing a novel CACNA1F variant that expands our understanding of CSNB. The use of a portable ERG device proved particularly valuable in assessing retinal function in this young patient. Further investigations are warranted to elucidate the clinical implications of this novel pathogenic variant.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"33-39"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799717","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}