Documenta Ophthalmologica最新文献

{"title":"Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.","authors":"Takaaki Hayashi, Hiroko Maki, Natsuki Higa, Kei Mizobuchi, Takafumi Maruyama, Taiju Hayashi, Hirotomo Saitsu, Kei Shinoda","doi":"10.1007/s10633-026-10149-z","DOIUrl":"https://doi.org/10.1007/s10633-026-10149-z","url":null,"abstract":"<p><strong>Purpose: </strong>To report a Japanese female patient with a male-pattern choroideremia phenotype associated with somatic mosaicism and skewed X-chromosome inactivation (XCI).</p><p><strong>Methods: </strong>A 24-year-old woman underwent comprehensive ophthalmic examinations, including fundus imaging and full-field electroretinography (ERG). Whole-exome sequencing (WES) was performed on leukocyte-derived DNA, with validation by Sanger sequencing of both leukocyte- and buccal mucosa-derived DNA. XCI status was assessed using the HUMARA assay on buccal mucosa-derived DNA.</p><p><strong>Results: </strong>Despite preserved visual acuity, fundus examination revealed diffuse chorioretinal atrophy with a residual stellate macular island of preserved autofluorescence. Full-field ERG demonstrated non-recordable responses under both dark- and light-adapted conditions. WES identified a pathogenic CHM frameshift variant (c.525_526del) at a low variant allele fraction (VAF: 10%) in leukocyte-derived DNA. The variant was undetectable by Sanger sequencing of leukocyte-derived DNA but was confirmed as a heterozygous allele in buccal mucosa-derived DNA. The 10% VAF was substantially lower than the approximately 50% expected for a constitutional heterozygous variant and was therefore consistent with somatic mosaicism. XCI analysis demonstrated skewing, with a methylated allelic ratio of 83.1:16.9; however, the preferentially inactivated X chromosome could not be phased with the CHM variant.</p><p><strong>Conclusions: </strong>The molecular findings in this case support somatic mosaicism. Skewed XCI was also observed in buccal mucosa, but its contribution to the phenotype remains uncertain because the preferentially inactivated X chromosome could not be phased with the CHM variant and the HUMARA assay did not resolve XCI within variant-bearing cells. Choroideremia should be considered in the differential diagnosis of female patients with severe chorioretinal atrophy, even in the absence of a family history.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982297","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":"Haidinger's brushes in albinism: altered perception patterns in single cases.","authors":"Sara Zambon, Gianluca Ruffato, Eric Altieri, Luca Battaglini","doi":"10.1007/s10633-026-10147-1","DOIUrl":"https://doi.org/10.1007/s10633-026-10147-1","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize perception of Haidinger's brushes (HB) in individuals with albinism, in whom reduced macular pigment and abnormal foveal/Henle-fiber morphology may alter polarization sensitivity.</p><p><strong>Methods: </strong>Three participants with oculocutaneous albinism (aged 19-29 years; two with nystagmus) viewed 468-nm polarized/unpolarized LED stimuli in a custom polarimetry device. Six randomized conditions varied polarization (0%, 20%, 50%, 100%) and polarizer rotation speed (2.3, 2.7, and 2.95 revolutions per second, rps); each tested eye completed three repetitions per condition. On each trial, participants reported percept presence/absence and qualitatively described any experienced percept.</p><p><strong>Results: </strong>At 100% polarization, perception occurred at 2.7 and 2.95 rps in all tested eyes but was absent at 2.3 rps. At 50% polarization/2.7 rps, P1 and P2 reported blurred perception in both eyes, whereas P3 reported none. No responses occurred at 20% or 0% polarization. Reported patterns were consistently asymmetric, peripheral, flickering/wavy, and unlike the classical central bowtie.</p><p><strong>Conclusions: </strong>Individuals with albinism can perceive polarization-dependent entoptic phenomena, but the percept may be qualitatively altered. The findings suggest residual macular-pigment-related dichroism but do not isolate its retinal, corneal, or neural determinants. Quantitative studies with macular pigment optical density (MPOD) mapping, optical coherence tomography metrics of the Henle fiber layer (OCT-HFL), corneal polarimetry, and temporal-sensitivity testing are needed.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905323","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":"Photopic negative response (PhNR) of the full-field electroretinogram as a biomarker of retinal ganglion cell loss in glaucoma: a systematic review and meta-analysis.","authors":"Osama Zeidan, Omaima A Shaaban","doi":"10.1007/s10633-026-10145-3","DOIUrl":"https://doi.org/10.1007/s10633-026-10145-3","url":null,"abstract":"<p><strong>Purpose: </strong>The photopic negative response (PhNR) of the full-field electroretinogram reflects retinal ganglion cell (RGC) function and is reduced in glaucoma, yet no quantitative synthesis of PhNR amplitude data across glaucoma studies exists.</p><p><strong>Methods: </strong>PubMed, Embase, Web of Science, Scopus, and Cochrane Central were searched from inception to February 2025 for studies reporting full-field PhNR amplitude in glaucoma patients versus healthy controls. Random-effects meta-analysis (DerSimonian-Laird) was performed. Subgroup analyses examined glaucoma subtype (POAG, NTG, OHT/suspect), disease severity, and recording methodology. Meta-regression assessed intraocular pressure (IOP) as a moderator. Publication bias was evaluated by Egger and Begg tests. Quality was assessed using the Newcastle-Ottawa Scale.</p><p><strong>Results: </strong>Twenty-eight studies (2847 eyes: 1624 glaucoma, 1223 controls) met inclusion criteria. Glaucoma patients demonstrated significantly reduced PhNR amplitude versus controls (pooled standardized mean difference [SMD] = - 37.82 μV, 95% CI - 40.14 to - 35.50, p < 0.001; I² = 58.4%). Reduction was proportional to disease severity: early glaucoma (SMD = - 21.0 μV), moderate (- 38.4 μV), and advanced (- 56.5 μV). NTG showed significant but smaller reduction (SMD = - 25.4 μV, p < 0.001) than POAG (- 38.1 μV). Meta-regression demonstrated a significant association between IOP and PhNR reduction (β = - 2.1 μV per mmHg, p < 0.001). No significant publication bias was detected (Egger p = 0.084).</p><p><strong>Conclusions: </strong>PhNR amplitude is a sensitive, non-invasive electroretinographic biomarker of RGC loss in glaucoma, reduced proportionally to disease severity and IOP. These findings support incorporation of PhNR into glaucoma electrophysiological assessment protocols.</p><p><strong>Prospero: </strong>CRD420261487121.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148891156","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":"The interaction between the ERG responses to sinusoidal modulation and flashes in mice.","authors":"Anneka Joachimsthaler, Nina Stallwitz, Jan Kremers","doi":"10.1007/s10633-026-10143-5","DOIUrl":"https://doi.org/10.1007/s10633-026-10143-5","url":null,"abstract":"<p><strong>Purpose: </strong>To study the interaction between responses to a sinusoidal modulation and a flash in the mouse ERG.</p><p><strong>Methods: </strong>We recorded responses to pulses on a 1 Hz sinewave background (Pulse on Sine Stimuli: PoS) in mice. Flashes were presented at 8 different temporal phases relative to the sinewave background. Recordings were performed for three different luminance levels with equal ratio between flash intensity and sinewave mean luminance. Control recordings with flashes on steady background, 1 Hz sinewave without flashes, and noise without modulation were recorded with the same mean luminances.</p><p><strong>Results: </strong>The flash responses to the PoS stimuli depended strongly on the phase of the flash relative to the sinewave background. The flash response was small, when the instantaneous luminance of the sinewave was large. The flash response was large, when the sinewave luminance was small. The effect decreased with increasing mean luminance. The response to the sinewave background also depended on the phase of flash presentation. The sinewave response was small when the flash response was large for all luminances. The responses to the PoS stimuli could be described with a linear model that assumes that the responses to the combined stimuli are a scaled addition of the flash responses on a steady background and of the responses to the sinewave without a flash. The obtained scaling factors for both flash and sinewave responses depended on their relative phase.</p><p><strong>Conclusion: </strong>The responses to flashes and modulating background influence each other in a complex manner. This is in contrast to responses in human observers, where only the flash response is influenced by the flash phase relative to the sinewave background. We propose that mouse responses are more sluggish and are integrated over extended periods, resulting in complex mutual interactions between responses to flashes and backgrounds.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879355","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 revealing melanoma-associated retinopathy in a patient with trametinib-associated retinopathy.","authors":"Masayuki Inuzuka, Kiyofumi Mochizuki, Shotaro Fujibayashi, Shinji Ueno, Hiroaki Iwata, Toshio Hisatomi","doi":"10.1007/s10633-026-10146-2","DOIUrl":"https://doi.org/10.1007/s10633-026-10146-2","url":null,"abstract":"<p><strong>Purpose: </strong>To describe electrophysiologic detection of melanoma-associated retinopathy (MAR) in a patient initially presumed to have isolated trametinib-associated retinopathy.</p><p><strong>Methods: </strong>Case report incorporating spectral-domain optical coherence tomography (OCT), fundus photography and fundus autofluorescence, serial full-field electroretinography (ffERG), and serum anti-transient receptor potential melastatin 1 (TRPM1) autoantibody testing by Western blot analysis.</p><p><strong>Results: </strong>A 68-year-old woman receiving trametinib for metastatic vulvar melanoma developed bilateral multifocal serous retinal detachments consistent with MEK inhibitor-associated retinopathy (MEKAR). The subretinal fluid resolved after discontinuation of trametinib, but nyctalopia persisted. ffERG performed according to the International Society for Clinical Electrophysiology of Vision (ISCEV) Standard demonstrated bilateral electronegative dark-adapted (DA) 3.0 responses with relatively preserved a-waves and markedly reduced b-waves, consistent with predominant post-photoreceptoral dysfunction. Serum testing demonstrated anti-TRPM1 autoantibody positivity. At approximately 6 months after the initial ffERG, visual acuity had improved, whereas nyctalopia persisted and ffERG findings remained essentially unchanged, with persistent bilateral electronegative DA 3.0 responses. These findings supported concomitant MAR in addition to MEKAR.</p><p><strong>Conclusions: </strong>In patients with melanoma who develop MEKAR during trametinib therapy, persistent nyctalopia or other visual symptoms despite anatomical resolution should prompt evaluation for concomitant paraneoplastic retinopathy. An electronegative ffERG together with anti-TRPM1 autoantibody positivity can provide important supportive evidence for MAR.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879276","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":"Paroxysmal tonic upgaze mimicking epileptic seizures in infancy: a diagnostic challenge.","authors":"Raffaele Falsaperla, Vincenzo Sortino, Catia Romano, Marco Andrea Nicola Saporito, Agnese Suppiej","doi":"10.1007/s10633-026-10141-7","DOIUrl":"https://doi.org/10.1007/s10633-026-10141-7","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the clinical features of paroxysmal tonic upgaze (PTU) and highlight its potential to mimicepileptic seizures in infants.</p><p><strong>Methods: </strong>We report the case of an 11-month-old infant with recurrent, brief episodes of sustained upward deviation of the eyes, first observed at six months of age. Neurological examination, psychomotor development, transfontanellar ultrasound, and video EEG were assessed.</p><p><strong>Results: </strong>The episodes progressively increased in frequency without impairment of consciousness, motor tone, or autonomic involvement. Neurological examination and psychomotor development were normal. Transfontanellar ultrasound was unremarkable, and video EEG revealed no epileptiform activity. The clinical phenotype, normal interictal findings, and absence of electrographic correlates supported the diagnosis of PTU.</p><p><strong>Conclusion: </strong>Recognition of PTU as a non-epileptic paroxysmal disorder is essential to avoid misdiagnosis of epilepsy and unnecessary therapeutic interventions.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789449","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":"Severe visual impairment as a complication of autism spectrum disorder.","authors":"Paulina Horwat, Julia Dezor-Garus, Marta Pawlak, Anna Gotz-Więckowska","doi":"10.1007/s10633-026-10138-2","DOIUrl":"https://doi.org/10.1007/s10633-026-10138-2","url":null,"abstract":"<p><strong>Purpose: </strong>To report the irreversible vision loss caused by optic neuropathy in a course of a vitamin A deficiency.</p><p><strong>Methods: </strong>Electroretinography (ERG) and pattern visual evoked potentials (PVEP) were used to establish a diagnosis, and to monitor the treatment in a child suffering from poor vision likely as a result of vitamin A deficiency.</p><p><strong>Results: </strong>A 13-year-old boy presented with eye pain, dryness, itching, photophobia, and decreased vision for the past 4 weeks. His medical history was significant for autism spectrum disorder, anxiety-depressive disorder, and eating disorder-neophobia. His visual acuity was severely impaired, measuring 1.2 LogMAR in the right eye and 1.0 LogMAR in the left eye. Slit lamp examination revealed keratinization of the conjunctiva and multiple punctate epithelial defects of the cornea. Optical coherence tomography (OCT) confirmed keratomalacia. The patient was referred to the Pediatric Gastroenterology Unit for further investigation and found to have severe malnutrition including hypovitaminosis A (< 0.05 μmol/L). Treatment included vitamin A supplementation, 200 000 IU, bandage contact lenses, moxifloxacin, and lubricant eye drops. Although it was impossible to perform ERG on the initial visit because of patients' poor general and ocular condition, full field ERGs showed generalized retinal dysfunction after 12 days of treatment. After 11 months, full field ERGs revealed retinal function within normal limits, but the patient's vision remained poor. Pattern visual evoked potentials (PVEPs) suggested persistent optic nerve dysfunction.</p><p><strong>Conclusion: </strong>Electrophysiological assessments, including ERG and (PVEP) were central to establishing an accurate diagnosis in cases where resolution of anterior segment lesions due to keratomalacia did not result in visual improvement. These tests are critical for the identification and monitoring of nutritional optic neuropathy.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762046","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":"Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort.","authors":"Xing Wei, Wuyi Li, Yunyu Zhou, Yamei Li, Yue Liu, Ruifang Sui","doi":"10.1007/s10633-026-10137-3","DOIUrl":"https://doi.org/10.1007/s10633-026-10137-3","url":null,"abstract":"<p><strong>Background: </strong>Biallelic FLVCR1 variants have been linked to a phenotypic spectrum ranging from isolated autosomal recessive retinitis pigmentosa (RP) to syndromic posterior column ataxia with retinitis pigmentosa (PCARP), yet detailed phenotypic characterization remains limited, particularly in Chinese patients.</p><p><strong>Purpose: </strong>To delineate the ocular and extraocular phenotype of FLVCR1-associated disease and to expand its mutational spectrum.</p><p><strong>Methods: </strong>We retrospectively reviewed five affected individuals with biallelic FLVCR1 variants confirmed by whole-exome sequencing (WES) and Sanger segregation analysis, and performed comprehensive ophthalmic assessments, including colour fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), perimetry, and full-field electroretinography (ffERG).</p><p><strong>Results: </strong>FLVCR1-associated disease presented as early-onset severe retinal degeneration with heterogeneous neurological involvement. OCT consistently demonstrated outer retinal thinning with ellipsoid-zone attenuation, and FAF revealed characteristic abnormalities. Cone and rod function on ffERG could be severely impaired within the first decade of life, and high myopia was a recurrent accompanying feature. Neurological manifestations could be subtle or absent at initial presentation, with gait instability and neuropathic features emerging during longitudinal follow-up. We identified two previously unreported FLVCR1 variants, c.734A > G (p.Asn245Ser) and c.1024 + 1G > T.</p><p><strong>Conclusions: </strong>FLVCR1-associated disease can present as early-onset severe retinal degeneration (EOSRD), together with neurological involvement that may evolve over time. These findings refine phenotypic delineation, support multidisciplinary surveillance involving ophthalmology and neurology, and expand the known mutational spectrum of this rare disorder.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663699","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":"Homozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.","authors":"Naeem Sbaiti, Maximilian D Kong, Johnathan A Bailey, Abdhel Exinor, Stephen H Tsang","doi":"10.1007/s10633-025-10074-7","DOIUrl":"10.1007/s10633-025-10074-7","url":null,"abstract":"<p><strong>Purpose: </strong>To characterize the clinical phenotype associated with a homozygous start codon-altering complex variant in the ABCA4 gene and evaluate its severity and prognosis in the context of Stargardt disease.</p><p><strong>Methods: </strong>Patient records were retrospectively reviewed for homozygous ABCA4 start codon variants. Patients underwent ophthalmic exam, multimodal imaging, full-field electroretinography (ffERG), and inherited retinal disease panel testing. Structural and functional retinal assessments were reviewed to determine phenotype severity.</p><p><strong>Results: </strong>Three brothers of Ashkenazi Jewish descent presented with profound early-onset vision loss beginning at age 7, with best-corrected visual acuity reduced to counting fingers or hand motion by early adulthood. Imaging revealed widespread macular atrophy, extensive intraretinal pigment migration, and near-complete foveal outer nuclear layer loss. ffERG demonstrated extinguished scotopic and photopic responses. The patients were found to be homozygous for a complex ABCA4 allele containing the start codon variant c.[1A > G;6089G > A]. These features were consistent with the rapid-onset chorioretinopathy phenotype, previously associated with null ABCA4 alleles.</p><p><strong>Conclusions: </strong>This report characterizes the clinical findings in patients homozygous for the c.[1A > G;6089G > A] variant in ABCA4, confirming its association with a severe, rapid-onset chorioretinopathy phenotype. The data support the pathogenic nature of this complex allele and expands the genotype-phenotype correlational spectrum of ABCA4-related disease, with implications for prognosis and genetic counseling.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"115-121"},"PeriodicalIF":2.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959087","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":"A novel IDS variant associated with an isolated ocular phenotype in Hunter syndrome.","authors":"Tsai-Chu Yeh, Gabriel Velez, Soo Hyeon Lee, Gia-Han Ngo, Aarushi Kumar, Ahmad Al-Moujahed, Charles Yu, Loh Shan Leung, Prithvi Mruthyunjaya, Vinit B Mahajan","doi":"10.1007/s10633-026-10104-y","DOIUrl":"10.1007/s10633-026-10104-y","url":null,"abstract":"<p><strong>Introduction: </strong>Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) mutations and is classically associated with multiple-organ-systems involvement. Ocular findings are usually reported in conjunction with systemic manifestations, and isolated ocular presentations have not been well characterized. Here, we report a novel hemizygous IDS variant in a patient who initially presented with isolated corneal and retinal pathology and was subsequently diagnosed with attenuated Hunter syndrome.</p><p><strong>Methods: </strong>Comprehensive ophthalmic and retinal evaluation was performed, including multimodal retinal imaging and full-field electroretinography, alongside genetic testing.</p><p><strong>Results: </strong>A 44-year-old male with progressive nyctalopia demonstrated bilateral parafoveal and peripheral retinal depigmentation with central macular sparing on optical coherence tomography and a symmetric bull's-eye pattern on fundus autofluorescence. Visual field testing revealed bilateral ring scotomas, and full-field electroretinography showed subnormal rod-predominant responses. Pedigree analysis suggested X-linked inheritance. Genetic testing identified a novel hemizygous IDS variant (c.707A > G, p.Lys236Arg), and the diagnosis of Hunter syndrome was supported by markedly reduced IDS activity and elevated urinary glycosaminoglycans with increased heparan sulfate.</p><p><strong>Conclusion: </strong>A novel missense IDS mutation was identified in association with Hunter syndrome, highlighting the importance for ophthalmologists to consider MPS II in patients presenting with isolated retinopathy and the value of genetic diagnosis in revealing atypical systemic disease.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"135-142"},"PeriodicalIF":2.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765372","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}