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Optic Disc drusen in a Child Diagnosed with Alport Syndrome—Case Report

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Open Journal of Nephrology 2014年第4期4卷 142-145页

作者： Adamu Sambo Mona Aslam Syam Padmanabha University Hospital of Leicester Leicester UK Peterborough City Hospital Peterborough UK

Optic disc drusen are eye abnormalities characterised by calcific degeneration affecting some axons of the optic nerve. Alport syndrome is a collagen IV related nephropathy with well-described pathognomonic ocular features. We present the case of a child who following series of investigations was found to have bilateral optic disc drusen, and eventually a further diagnosis of Alport syndrome confirmed. Literature is clear on the underlined aetiology responsible for both renal and extra renal abnormalities of Alport syndrome, which is not related to development of optic disc drusen. The case described makes it pertinent that not only the associated eye signs of Alport syndrome are monitored, but also early detection of other possible co-existing diseases that may influence outcomes.

关键词： Alport Syndrome Optic Disc drusen Pseudopapilloedema

Optic Nerve Head drusen, Myopia and Ocular Hypertension: A Case Report

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Open Journal of Ophthalmology 2014年第1期4卷 1-5页

作者： Arzu Taskiran Comez Baris Komur Department of Ophthalmology School of Medicine Canakkale Onsekiz Mart University Canakkale Turkey

A 20-year-old male patient presented at our clinic complaining of strange visual experiences (neither decreased nor blurred) and a mild headache while reading. His best corrected visual acuity revealed 20/20 with a fort myopic correction. Intraocular pressures measured with Dynamic Contour Tonometer (DCT) (Swiss Microtechnology AG, Port, Switzerland) were 23.3 mmHg in the right eye (OD) and 27.4 mmHg in the left eye (OS) with cenral corneal thicknesses (CCTs) of 588 (OD) and 591 (OS) microns, respectively. Optic discs were bilateral pale with indistinct and scalloped margins without cupping. Red free photos showed autofluorescence of both optic discs, representative of optic disc drusen. Visual field analysis (VFA) of both eyes revealed sensitivity depression with localized defects consistent with the Optical Coherence Tomography (OCT) findings. Optic nerve head drusen (ONHD), myopia and high intraocular pressures (IOPs), may cause ganglion cell damage resulting in RNFL thinning and visual field loss. Because of the difficulty in detecting the exact cause and the extent of the damage, patients with ONHD associated with high IOPs and myopia should be examined closely with serial monitoring using OCT and VFA. In case of RNFL thinning and visual field defects, topical antiglaucomatous therapy should also be determined.

关键词： Optic Disc drusen Myopia Glaucoma Intraocular Pressure

Macular function assessed by multifocal electroretinogram in elder patients with macular pucker,subretinal CNV and drusen

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Macular function assessed by multifocal electroretinogram in...

Optical coherence tomography in optic disc drusen

The Third Asian Conference on Vision (ACV2004)

作者： Chen Jinghua Li XiaoxinEye Department the People’s Hospital of Peking University Beijing China

＜正＞ Purpose: To compare macular function assessed by multifocal electroretinogram （mfERG） in a subset of elder patients with macular pucker, subretinal CNV and ***: 18 eyes of 17 patients （aged 56 - 75 years , mean = 67.12±5.41years） suffered from macular pucker, with a best corrected visual acuity of 4/40 to 10/40.10 eyes of 9 patients （aged 55 - 69 years , mean = 60.89 ±4.37 years） suffered from subfoveal choroidal

关键词： multifocal ERGs macular pucker subretinal CNV drusen

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Annals of Eye Science 2020年第1期5卷 22-34页

作者： J.Alexander Fraser Lulu L.C.D.Bursztyn Department of Clinical Neurological Sciences Western UniversityLondonONCanada Department of Ophthalmology Western UniversityLondonONCanada

Optic disc drusen (ODD) are hyaline deposits in the optic nerve head, occurring in approximately 2% of the population. ODD may be superficial and visible, or buried and either invisible or seen only as elevation of the optic disc, mimicking optic disc edema. Advanced optic nerve imaging, including optical coherence tomography (OCT) can be used to diagnose and characterize ODD with very high resolution. Enhanced depth imaging (EDI-OCT) in particular has emerged as the optimal modality to directly visualize ODD. This modality has led to a greater ability to differentiate ODD from optic disc edema and prevent misdiagnosis or invasive testing. We review the characteristic findings of ODD on OCT, their distinguishing features, and the use of OCT as a biomarker in the neuro-ophthalmic assessment of ODD.

关键词： drusen optic disk tomography optical coherence

Hyperspectral autofluorescence characterization of drusen and sub-RPE deposits in age-related macular degeneration

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Annals of Eye Science 2021年第1期6卷 20-27页

作者： Yuehong Tong Thomas Ach Christine A.Curcio RTheodore Smith Department of Ophthalmology Icahn School of Medicine at Mount SinaiNew YorkNYUSA Department of Ophthalmology University Hospital BonnGermany Department of Ophthalmology and Visual Sciences University of Alabama at BirminghamALUSA

Background:Soft drusen and basal linear deposit(BLinD)are two forms of the same extracellular lipid rich material that together make up an Oil Spill on Bruch’s membrane(BrM).drusen are focal and can be recognized *** contrast BLinD is thin and diffusely distributed,and invisible clinically,even on highest resolution OCT,but has been detected on en face hyperspectral autofluorescence(AF)imaging ex *** sought to optimize histologic hyperspectral AF imaging and image analysis for recognition of drusen and sub-RPE deposits(including BLinD and basal laminar deposit),for potential clinical ***:Twenty locations specifically with drusen and 12 additional locations specifically from fovea,perifovea and mid-periphery from RPE/BrM flatmounts from 4 AMD donors underwent hyperspectral AF imaging with 4 excitation wavelengths(λex 436,450,480 and 505 nm),and the resulting image cubes were simultaneously decomposed with our published non-negative matrix factorization(NMF).Rank 4 recovery of 4 emission spectra was chosen for each excitation ***:A composite emission spectrum,sensitive and specific for drusen and presumed sub-RPE deposits(the SDr spectrum)was recovered with peak at 510-520 nm in all tissues with drusen,with greatest amplitudes at excitationsλ_(ex)436,450 and 480 *** RPE spectra of combined sources Lipofuscin(LF)/Melanolipofuscin(MLF)were of comparable amplitude and consistently recapitulated the spectra S1,S2 and S3 previously reported from all tissues:tissues with drusen,foveal and extra-foveal ***:A clinical hyperspectral AF camera,with properly chosen excitation wavelengths in the blue range and a hyperspectral AF detector,should be capable of detecting and quantifying drusen and sub-RPE deposits,the earliest known lesions of AMD,before any other currently available imaging modality.

关键词： Age-related macular degeneration sub-RPE deposits drusen hyperspectral autofluorescence(AF)

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Bruch膜上的drusen

国外医学.眼科学分册 1986年第2期 75-78页

作者：李子良曹安民徐州眼病防治研究所

Bonders于1854年首次描述了生长于脉络膜Bruch膜上的drusen。在英语文献中过去称为胶状小体(colloid body)临床表现为眼底多个细小的黄白色带有闪光的视网膜下沉积物。病理组织学检查,视网膜色素上皮(RPE)下有嗜酸性物质堆积于Bruch膜... 详细信息

Bonders于1854年首次描述了生长于脉络膜Bruch膜上的drusen。在英语文献中过去称为胶状小体(colloid body)临床表现为眼底多个细小的黄白色带有闪光的视网膜下沉积物。病理组织学检查,视网膜色素上皮(RPE)下有嗜酸性物质堆积于Bruch膜内层。drusen可出现于视功能完全正常的眼底,老年人中更多见,也可在一些眼底病(如:老年性黄斑变性、蛋黄样黄斑变性、脉络膜黑色素瘤、结晶样视网膜病变等)时发生,可与遗传有关。关于它的起因、

关键词：基底膜弹力胞浆细胞质脉络膜葡萄膜 drusen Bruch 细胞器 RPE 超微结构溶酶体毛细血管脂褐质眼底镜色素上皮硝酸双氧铀色素颗粒

*** of retinal images in visually impaired individuals:drusen and age-related macular degeneration(AMD)

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Annals of Eye Science 2018年第1期 511-511页

作者： Aaron Johnson Caitlin Murphy Department of Psychology Concordia UniversityMontrealQCCanada CRIR/Centre de réadaptation MAB-Mackay du CIUSSS du Centre-Ouest-de-l’Île-de-Montréal MontrealQCCanada

Background:With a large portion of older adults living longer,the number of individuals diagnosed with low vision is *** use of optical coherence tomography/scanning laser ophthalmoscope(OCT/SLO)to diagnose retinal disease has become common place in the last 10 years,yet currently there are no OCT/SLO databases for pathological *** aim is to develop a clinical database of individuals who have drusen(i.e.,lipid deposits found under the retina),or have been diagnosed with age-related macular degeneration(AMD),with information as to how the structure of the diseased retina changes over time,as well as measures of visual and cognitive functional ***:Fundus photographs and retinal scans will be taken using the same model of optos OCT/SLO located in three test sites(MAB-Mackay Rehabilitation Centre,School of Optometry Clinic at the University of Montreal,and the Lighthouse Institute,New York,USA).For each individual entry in the database,demographic and diagnosis information will be *** OCT/SLO images will be graded according to the Age-related Eye Disease Study standard,in addition to number and size of drusen,severity of geographic atrophy,severity of pigment mottling and presence of choroidal *** topography and Raster scans from the OCT/SLO will provide a cross-sectional look at affected *** stability will be recorded using the SLO function,and present four different tasks that are designed to reproduce typical tasks of daily vision,with each task lasting for 10 *** tasks are cross fixation,face recognition,visual search,and *** tasks in addition to the retinal scans will be used to determine the eccentricity of a preferred retinal locus from the anatomical fovea,and can be used as an outcome measure for clinical interventions in visually impaired ***:The database will be available to professors training eye-care practitioners and rehabilitation specialists as

关键词： Age-related macular degeneration(AMD) drusen cof coherence tomography scanning laser ophthalmoscope(SLO)

*** link between cognitive impairment and drusen quantity in age-related macular degeneration

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Annals of Eye Science 2019年第1期 210-210页

作者： Stephanie Pietrangelo Caitlin Murphy Sophie Hallot Aaron Johnson Department of Psychology Concordia UniversityMontréalQCCanada CRIR/Centre de réadaptation MAB-Mackay du CIUSSS du CentreOuest-de-l’Île-de-Montréal MontrealQCCanada

Background:Age-related macular degeneration(AMD)is a common cause of severe vision impairment in populations over 50 years *** is characterized by drusen;the accumulation of waste between the retinal pigment epithelium and Bruch’s *** have been identified in the eyes of Alzheimer’s patients,***,beta-amyloid,best known as a pathological component of the senile plaques in Alzheimer’s disease,has been identified as a component of drusen in *** have also demonstrated an increased prevalence of cognitive impairment in individuals with *** current study uses optical coherence tomography(OCT)and a cognitive assessment to investigate the potential use of drusen as a biomarker of cognitive *** overall number of drusen detectable on the OCT scans of individuals who exhibit mild cognitive impairment is compared to the number of drusen detectable on the OCT scans of individuals who do not exhibit mild cognitive ***:To date,10 participants(nine women)aged 74 to 95 years with a diagnosis of AMD and/or drusen have been *** Optos®OCT/SLO imaging system was used to take cross-sectional images of the *** images were then manually graded by two trained graders to determine the number of drusen present along the *** Montreal Cognitive Assessment(MoCA)was used to assess overall cognitive ***:Of the 10 participants,three passed the full MoCA(*** at or above 26 out of 30 possible points)and seven did not pass,scoring positive for mild cognitive impairment(Mpass=27.33,SDpass=0.58;Mfail=21.86,SDfail=2.55).Preliminary analyses have demonstrated that individuals who pass the MoCA seem to have fewer drusen present overall(Mdn=35)compared to those who score positive for cognitive impairment(Mdn=63).However,a Mann-Whitney U test revealed that these findings are not significant;U=5,P=***:The results agree with previous literature demonstrating an increased prevalence of

关键词： Age-related macular degeneration(AMD) drusen cognitive impairment aging

Retinal pigment epithelium–Bruch’s membrane volume in grading of age-related macular degeneration

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International Journal of Ophthalmology(English edition) 2023年第11期16卷 1827-1831页

作者： Fabian Kananen Ilkka Immonen Department of Ophthalmology Örebro University HospitalÖrebro 70185Sweden Department of Ophthalmology and Otorhinolaryngology Helsinki UniversityHelsinki 00014Finland Department of Ophthalmology Helsinki University Central HospitalHelsinki 00014Finland

AIM:To assess the agreement of optical coherence tomography(OCT)algorithm-based retinal pigment epithelium–Bruch’s membrane complex volume(RBV)with fundus photograph-based age-related macular degeneration(AMD)***:Digital color fundus photographs(CFPs)and spectral domain OCT images were acquired from 96 elderly *** were graded according to Age-Related Eye Disease Study(AREDS)*** image segmentation and RBV data calculation were done with OrionTM *** and multivariate analyses were performed to find out whether AMD lesion features associated with higher ***:RBV correlated with AMD grading(rs=0.338,P=0.001),the correlation was slightly stronger in early AMD(n=52;rs=0.432,P=0.001).RBV was higher in subjects with early AMD compared with those with no AMD lesions evident in fundus photographs(1.05±0.20 vs 0.96±0.13 mm3,P=0.023).In multivariate analysis higher RBVs were associated significantly with higher total drusen(β=0.388,P=0.027)and pigmentation areas(β=0.319,P=0.020)in fundus photographs,whereas depigmentation area(β=-0.295,P=0.015)associated with lower ***:RBV correlate with AMD grading status,with a stronger association in patients with moderate,non-late AMD *** effect is driven mostly by lesions with drusen or *** with depigmentation tend to have lower *** is more comprehensive measurement of the key area of AMD pathogenesis,compared to sole drusen volume *** measurements are independent on grader variations and offer a possibility to quantify early and middle grade AMD lesions in a research setting,but may not substitute fundus photograph-based grading in the whole range of AMD spectrum.

关键词： age-related macular degeneration drusen optical coherence tomography Bruch’s membrane