DOCUMENTA OPHTHALMOLOGICA文献眼科学
DOCUMENTA OPHTHALMOLOGICA(英文缩写 DOC OPHTHALMOL),ISSN 0012-4486,eISSN 1573-2622,中文译名:文献眼科学 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-11-01 至 2026-10-31，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 1.854 | Q4 |
| 2022 | 1.400 | Q4 |
| 2023 | 2.600 | Q2 |
| 2024 | 2.900 | Q1 |
| 2025 | 2.000 | Q3 |
DOCUMENTA OPHTHALMOLOGICA 最新收录文献
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1. The effect of high-frequency light flicker on pattern-reversal and steady-state visual evoked potentials in healthy subjects.
PMID:日期:2026-09-24We investigated the effect of screen technology on visual evoked potentials (VEPs) by comparing a standard Cathode Ray Tube (CRT) screen with two Liquid Crystal Display (LCD) Light-Emitting Diode (LED) screens with differing levels of latency and high-frequency backlight flicker. All screens were calibrated to emit the same luminance and color composition. 19 young healthy subjects underwent VEP recording using checkerboard patterns with check widths of 0.26 degrees (º), 0.51º and 1.03º. Pattern Reversal VEPs (prVEPs) were recorded from occipital (O1, Oz, and O2) electrodes referenced to a frontal electrode (Fz), and Steady State VEPs (SSVEPs) were recorded using a standard International 10-20 electrode cap. prVEP peak latencies were prolonged and amplitudes were slightly larger with LCD screens compared to the CRT screen, though the high-flicker LCD screen had slightly shorter peak latencies. Pattern-reversal SSVEP at 10 and 12 reversals/s entrained cortical activity to a comparable level across all screens, with no representation of high-frequency backlight flicker or its subharmonics detected in the SSVEP signal. Backlight flicker characteristics, timing jitter and latency affects VEP. These findings suggest that backlight flicker, timing jitter and latency should be considered when selecting LCD screens for clinical VEP recordings.
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2. Tapetal-like reflex in RPGR-associated retinal dystrophies: two cases with distinct phenotypes.
PMID:日期:2026-09-18Retinitis pigmentosa GTPase regulator (RPGR) mutations are associated with X-linked inherited retinal diseases (IRDs), with variable phenotypes including retinitis pigmentosa (RP), cone-rod dystrophy (CRD), and cone dystrophy (CD). Tapetal-like reflex (TLR) is commonly observed in female carriers and has more recently been reported in hemizygous male patients with cone-dominant or cone-rod phenotypes. Here, we report two male patients with RPGR mutations and TLR. Clinical history, ophthalmic examination, multimodal retinal imaging, and genetic testing were reviewed in two unrelated Thai males with confirmed RPGR mutations. The first patient was a 9-year-old boy with sector RP and progressive bilateral blurred vision. The second was a 24-year-old man with sector RP and CD. Both exhibited a characteristic TLR at the posterior pole despite being affected males. These cases illustrate the phenotypic variability associated with RPGR mutations and the occurrence of TLR in affected males. TLR may serve as a useful clinical clue to RPGR-related disease in both female carriers and affected males, including those with milder phenotypes such as sector RP. In affected males, the presence of TLR may be associated with preserved outer retinal structures and could indicate a milder phenotype, an earlier disease stage, or a more favorable prognosis.
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3. Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.
PMID:日期:2026-09-16To report a Japanese female patient with a male-pattern choroideremia phenotype associated with somatic mosaicism and skewed X-chromosome inactivation (XCI). 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. 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. 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.
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4. Haidinger's brushes in albinism: altered perception patterns in single cases.
PMID:日期:2026-09-07To 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. 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. 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. 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.
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5. Paroxysmal tonic upgaze mimicking epileptic seizures in infancy: a diagnostic challenge.
5. 婴儿期模仿癫痫发作的阵发性强直性向上凝视：诊断挑战PMID:日期:2026-08-22[中文摘要] 描述阵发性强直性上视（PTU）的临床特征，并强调其在婴儿中模仿癫痫发作的潜在可能。我们报告一例11月龄婴儿，表现为反复、短暂的持续性双眼上视偏斜，首次发现于6月龄。评估了神经系统检查、精神运动发育、经囟门超声及视频脑电图。发作频率逐渐增加，不伴意识障碍、肌张力异常或自主神经受累。神经系统检查及精神运动发育正常。经囟门超声未见异常，视频脑电图未见癫痫样活动。临床表型、发作间期检查正常及缺乏脑电图相关性支持PTU的诊断。认识PTU是一种非癫痫性阵发性障碍对于避免癫痫误诊和不必要的治疗干预至关重要。
[英文摘要] To describe the clinical features of paroxysmal tonic upgaze (PTU) and highlight its potential to mimicepileptic seizures in infants. 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. 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. Recognition of PTU as a non-epileptic paroxysmal disorder is essential to avoid misdiagnosis of epilepsy and unnecessary therapeutic interventions.
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7. Severe visual impairment as a complication of autism spectrum disorder.
PMID:日期:2026-08-14To report the irreversible vision loss caused by optic neuropathy in a course of a vitamin A deficiency. 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. 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. 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.
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8. Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort.
PMID:日期:2026-08-03Biallelic 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. To delineate the ocular and extraocular phenotype of FLVCR1-associated disease and to expand its mutational spectrum. 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). 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. 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.
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9. Editorial (volume 153, issue 1): focus on clinical evaluation of vision.
9. 社论（第153卷，第1期）：聚焦视力临床评估PMID:日期:2026-08该文献暂无摘要。
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10. Progressive cone dystrophy in PDE6C-associated achromatopsia with a likely pathogenic variant and a VUS.
PMID:日期:2026-07-29To 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). 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). 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. 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.