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Article ; Online: Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa.

Kiraly, Peter / Downes, Susan M / Fischer, M Dominik

2023 Volume 14, Issue 7

Abstract: Retinal angiomatous proliferation (RAP) and other types of choroidal neovascularization (CNV) are very rarely reported in patients with retinitis pigmentosa (RP). We present a case report of a 91-year-old patient with an obvious RP phenotype, who ... ...

Abstract	Retinal angiomatous proliferation (RAP) and other types of choroidal neovascularization (CNV) are very rarely reported in patients with retinitis pigmentosa (RP). We present a case report of a 91-year-old patient with an obvious RP phenotype, who presented with a sudden onset of vision worsening and metamorphopsia in the left eye. Genetic testing on the UK inherited retinal disease panel did not identify a pathogenic variant. Multimodal imaging comprising optical coherence tomography (OCT), OCT angiography, and fluorescein and indocyanine green angiography showed a RAP lesion in the left macula. The patient received three treatments of monthly injections of aflibercept, with excellent morphological and functional outcomes. Taking into account the patient's age at presentation of the RAP lesion, it is not clear whether the RAP was associated or coincidental with RP. This case report highlights the importance of possessing an awareness that RAP lesions can occur in RP. Moreover, due to a good response and potential safety concerns with continuous anti-VEGF injections in RP patients, a pro re nata (PRN) regimen might be the safest option.
MeSH term(s)	Humans ; Retinal Neovascularization/drug therapy ; Retinal Neovascularization/genetics ; Fluorescein Angiography/methods ; Macular Degeneration/drug therapy ; Macular Degeneration/genetics ; Macular Degeneration/pathology ; Retina/pathology ; Retinitis Pigmentosa/drug therapy ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/pathology ; Cell Proliferation
Language	English
Publishing date	2023-07-13
Publishing country	Switzerland
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071438
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Sudden Gross Visual Deterioration: Importance of Examining the Whole Eye.

Iqbal, Naeem / De Silva, Samantha R / Downes, Susan M

Cureus

2023 Volume 15, Issue 1, Page(s) e34374

Abstract: A 75-year-old caucasian female presented with sudden severe visual deterioration in one eye reduced from 6/9 to counting fingers (CF), with second eye reduction in vision from 6/9 to CF three months later. Past medical history included a background of ... ...

Abstract	A 75-year-old caucasian female presented with sudden severe visual deterioration in one eye reduced from 6/9 to counting fingers (CF), with second eye reduction in vision from 6/9 to CF three months later. Past medical history included a background of proliferative diabetic retinopathy, uncontrolled blood pressure, and a 44-year history of poorly controlled type 1 diabetes mellitus (T1DM). Previous ocular history included bilateral pan-retinal photocoagulation for proliferative diabetic retinopathy, followed by bilateral vitrectomies, with subsequent bilateral cataract surgery with intraocular lens implants. A diagnosis of anterior ischemic optic neuropathy (AION) was thought to be the most likely diagnosis due to sudden visual loss, pale discs, and previous long-term history of diabetes and blood pressure with variable control in the absence of a raised erythrocyte sedimentation rate (ESR). However, at the time of the second eye visual loss, the inferior peripheral retina examination revealed bilateral pseudophakic intraocular lens dislocations. With spectacle correction of +11.50/-1.00 x 75 right eye and +11.50/-1.00 x 65 left eye, her visual acuities were 6/12 right eye and 6/9 left eye, and subsequent secondary intraocular lens insertion was planned. This case highlights the importance of a careful review of the whole eye to ensure that remediable causes of visual loss are not missed.
Language	English
Publishing date	2023-01-30
Publishing country	United States
Document type	Case Reports
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.34374
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Article ; Online: Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa

Király, Péter / Downes, Susan M. / Fischer, M. Dominik

Genes (Basel). 2023 July 13, v. 14, no. 7

2023

Abstract	Retinal angiomatous proliferation (RAP) and other types of choroidal neovascularization (CNV) are very rarely reported in patients with retinitis pigmentosa (RP). We present a case report of a 91-year-old patient with an obvious RP phenotype, who presented with a sudden onset of vision worsening and metamorphopsia in the left eye. Genetic testing on the UK inherited retinal disease panel did not identify a pathogenic variant. Multimodal imaging comprising optical coherence tomography (OCT), OCT angiography, and fluorescein and indocyanine green angiography showed a RAP lesion in the left macula. The patient received three treatments of monthly injections of aflibercept, with excellent morphological and functional outcomes. Taking into account the patient’s age at presentation of the RAP lesion, it is not clear whether the RAP was associated or coincidental with RP. This case report highlights the importance of possessing an awareness that RAP lesions can occur in RP. Moreover, due to a good response and potential safety concerns with continuous anti-VEGF injections in RP patients, a pro re nata (PRN) regimen might be the safest option.
Keywords	angiogenesis ; angiography ; case studies ; eyes ; fluorescein ; patients ; phenotype ; retinitis pigmentosa ; tomography ; vision
Language	English
Dates of publication	2023-0713
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071438
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Article ; Online: A nationwide survey of hydroxychloroquine retinopathy presenting to the hospital eye service in the United Kingdom.

Yusuf, Imran H / Han, Ruofan C / Downes, Susan M / Sharma, Srilakshmi M

Eye (London, England)

2022 Volume 37, Issue 10, Page(s) 2082–2088

Abstract: Background: The risk of developing hydroxychloroquine retinopathy is considered sufficient to justify national monitoring programmes. There are an estimated 71,144-77,170 long-term hydroxychloroquine users in the UK. However, the number of patients ... ...

Abstract	Background: The risk of developing hydroxychloroquine retinopathy is considered sufficient to justify national monitoring programmes. There are an estimated 71,144-77,170 long-term hydroxychloroquine users in the UK. However, the number of patients diagnosed with retinopathy is unknown. This study aimed to identify the number of cases and clinical characteristics of hydroxychloroquine retinopathy diagnosed annually in hospital eye services across the UK. Methods: A nationwide, prospective case ascertainment study was undertaken using the British Ophthalmological Surveillance Unit, which sends approximately 1420 reporting cards to UK Ophthalmologists monthly. The case definition was two abnormal tests suggestive of hydroxychloroquine retinopathy. Demographic and clinical data relating to hydroxychloroquine use and retinopathy were collected from identified cases using a standardised questionnaire over a 1-year period (2018-2019). Results: Sixty-six cases of hydroxychloroquine retinopathy were reported, and 46 questionnaires were received (73% response rate). Twenty-four incident cases of hydroxychloroquine retinopathy were identified (24-43 cases following adjustment). The median duration of drug therapy was 19 years (range: 4-50 years, IQR: 14.5-23 years). Fourteen patients were asymptomatic, and 9 symptomatic at diagnosis. A trend towards a lower mean deviation on visual field testing was observed in the symptomatic group (-11.55 dB versus -6.9 dB; P = 0.15). Conclusion: Between 1 in 1655 and 3215 (0.03-0.06%) long-term hydroxychloroquine users were diagnosed with retinopathy over the study period. We estimate that monitoring was available for 1.9-3.8% of long-term users, accounting for a lower than expected incidence. The high proportion of symptomatic retinopathy at diagnosis underlines the importance of monitoring to detect pre-symptomatic disease.
MeSH term(s)	Humans ; Hydroxychloroquine/adverse effects ; Retinal Diseases/chemically induced ; Retinal Diseases/diagnosis ; Retinal Diseases/epidemiology ; Visual Field Tests ; Hospitals ; United Kingdom/epidemiology ; Antirheumatic Agents/adverse effects
Chemical Substances	Hydroxychloroquine (4QWG6N8QKH) ; Antirheumatic Agents
Language	English
Publishing date	2022-11-15
Publishing country	England
Document type	Journal Article
ZDB-ID	91001-6
ISSN	1476-5454 ; 0950-222X
ISSN (online)	1476-5454
ISSN	0950-222X
DOI	10.1038/s41433-022-02291-0
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Article ; Online: A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in

Kirkby, Jennifer / Halford, Stephanie / Shanks, Morag / Moore, Anthony / Gait, Anthony / Jenkins, Lucy / Clouston, Penny / Patel, Chetan K / Downes, Susan M

Genes

2023 Volume 14, Issue 6

Abstract: X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe ... ...

Abstract	X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.
MeSH term(s)	Female ; Humans ; Eye Proteins/genetics ; Phenotype ; Retina/pathology ; Retinoschisis/genetics ; Retinoschisis/pathology ; X Chromosome Inactivation/genetics ; Child, Preschool
Chemical Substances	Eye Proteins ; RS1 protein, human
Language	English
Publishing date	2023-05-29
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14061193
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Article: Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (

Sarkar, Hajrah / Dubis, Adam M / Downes, Susan / Moosajee, Mariya

Frontiers in genetics

2020 Volume 11, Page(s) 335

Abstract: Mutations in the retinol dehydrogenase 12 ( ...

Abstract	Mutations in the retinol dehydrogenase 12 (
Language	English
Publishing date	2020-04-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2020.00335
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Article ; Online: Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

Pearce, Elizabeth / Sivaprasad, Sobha / Broadgate, Suzanne / Kiire, Christine / Downes, Susan M / Halford, Stephanie / Chong, Victor

Vision (Basel, Switzerland)

2023 Volume 7, Issue 1

Abstract: Diabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study ... ...

Abstract	Diabetic Retinopathy (DR) is a leading cause of preventable visual impairment in the working age population. Despite the increasing prevalence of DR, there remain gaps in our understanding of its pathophysiology. This is a prospective case-control study comparing the genetic profiles of patients with no DR vs. non-proliferative DR (NPDR) focusing on intraretinal microvascular abnormalities (IRMA) and venous beading (VB) in Caucasians. A total of 596 participants were recruited to the study; 199 with moderate/severe NPDR and 397 with diabetes for at least 5 years without DR. Sixty-four patients were excluded due to technical issues. In total, 532 were analysed; 181 and 351 were in the NPDR group and no DR group, respectively. Those with severe IRMA and VB had distinctly different genetic profiles from each other and from the no DR group, which further supports the theory that these two features of DR might have different etiologies. This also suggests that IRMA and VB are independent risk factors for the development of PDR and may have different pathophysiologies. If these findings are confirmed in larger studies, this could pave the way for personalised treatment options for those more at risk of developing different features of NPDR.
Language	English
Publishing date	2023-03-02
Publishing country	Switzerland
Document type	Journal Article
ISSN	2411-5150
ISSN (online)	2411-5150
DOI	10.3390/vision7010018
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Article ; Online: New Imaging Technology for Simultaneous Multiwavelength-UWF Fundus Fluorescein Angiography and Indocyanine Green Angiography With Navigated Central and Peripheral SS-OCT.

Bravo, Francisco Javier Valentin / Ayliffe, William / Stanga, Sebastian Francis Eduardo / Reinstein, Ursula Inge / Moxham, Rob / Tariq, Zeb / Downes, Susan M / Stanga, Paulo Eduardo

Ophthalmic surgery, lasers & imaging retina

2023 Volume 54, Issue 7, Page(s) 401–410

Abstract: Objective: Our aim was to assess central and peripheral retinal and choroidal diseases using novel simultaneous multiwavelength-ultra-widefield (MW-UWF) fundus fluorescein angiography (FFA)/indocyanine green angiography (ICGA) with navigated central and ...

Abstract	Objective: Our aim was to assess central and peripheral retinal and choroidal diseases using novel simultaneous multiwavelength-ultra-widefield (MW-UWF) fundus fluorescein angiography (FFA)/indocyanine green angiography (ICGA) with navigated central and peripheral swept-source optical coherence tomography (SS-OCT) technology. Methods: Retrospective evaluation was carried out of 30 consecutive patients (60 eyes) who underwent UWF red/green (RG), infrared (IR), FFA and ICGA with simultaneous navigated SS-OCT using Optos Silverstone (Optos PLC). Angiographic retinal and choroidal findings in vascular pathologies and their relationship with the vitreoretinal interface (VRI) were assessed. Results: Simultaneous FFA with navigated SSOCT was performed in all patients and simultaneous FFA-ICGA with SS-OCT in 18 eyes (30%). Cross-sectional central and peripheral changes in the retina, choroid, and VRI corresponding with angiographic findings in several diseases were imaged. Conclusion: First-in-human study of a new technology providing UWF RG/FFA/ICGA with simultaneous navigated central and peripheral SS-OCT can guide clinical management and provide new insights and understanding of central and peripheral retinal and choroidal disease.
MeSH term(s)	Humans ; Fluorescein Angiography/methods ; Tomography, Optical Coherence/methods ; Indocyanine Green ; Retrospective Studies ; Cross-Sectional Studies ; Choroid Diseases/pathology ; Choroid/blood supply
Chemical Substances	Indocyanine Green (IX6J1063HV)
Language	English
Publishing date	2023-06-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2701167-7
ISSN	2325-8179 ; 2325-8160
ISSN (online)	2325-8179
ISSN	2325-8160
DOI	10.3928/23258160-20230607-01
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Article ; Online: Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES).

Downes, Susan M / Mall, Sonia P / Al-Khuzaei, Saoud / Chadha, Rasmeet / Gibson, Andrew / Chong, Victor / Bird, Alan C

BMC ophthalmology

2023 Volume 23, Issue 1, Page(s) 322

Abstract: Purpose: To describe a condition with the following features: chronic central serous chorioretinopathy (CCSC), chorioretinal folds, scleral changes (including any of the following flattened or 'squared off' posterior pole, 'T sign', or thickened ocular ... ...

Abstract	Purpose: To describe a condition with the following features: chronic central serous chorioretinopathy (CCSC), chorioretinal folds, scleral changes (including any of the following flattened or 'squared off' posterior pole, 'T sign', or thickened ocular coats), accompanied by a short axial length and hypermetropia in a series of 7 patients. Methods: The case notes of 7 patients presenting with a combination of CSC, choroidal folds scleral changes and hypermetropia were reviewed as part of a retrospective case series. Corrected visual acuities, serial refraction, colour imaging, fluorescein and indocyanine green angiography findings, together with B-ultrasound scan features were recorded, with axial length measurements as available (< 23.3 mm was defined as short). Results: The study included 14 eyes of 7 subjects (2 females and 5 males) with a primary presentation of central vision disturbance. All patients showed signs of previous or current episodes of the following features in at least one eye: CSC (5/7 bilateral); choroidal folds (6/7 bilateral), thickening of ocular coats in the 5 in whom this was measured, at least one scleral abnormality on ultrasound in at least one eye. A short axial length at final appointment was recorded in 13/14 eyes. Conclusions and relevance: The combination of CCSC with choroidal folds, hypermetropia with apparent shortening of the eyeball associated with one or more scleral abnormalities such as a flattened or 'squared off 'appearance of the B ultrasound may be a specific ocular condition. The aetiology of this particular combination of posterior segment manifestations is unknown; the choroid could be the primary focus of disease with secondary involvement of the sclera. Alternatively, the features observed may result from a chronic inflammatory process affecting the sclera with secondary effects on the choroid, retinal pigment epithelium and retina. In our case series, the final vision was not significantly different from vision at presentation.
MeSH term(s)	Male ; Female ; Humans ; Central Serous Chorioretinopathy/diagnosis ; Retrospective Studies ; Sclera ; Hyperopia ; Fluorescein Angiography/methods ; Indocyanine Green ; Tomography, Optical Coherence/methods ; Choroid ; Choroid Diseases/diagnosis ; Choroid Diseases/etiology
Chemical Substances	Indocyanine Green (IX6J1063HV)
Language	English
Publishing date	2023-07-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2050436-6
ISSN	1471-2415 ; 1471-2415
ISSN (online)	1471-2415
ISSN	1471-2415
DOI	10.1186/s12886-023-03038-5
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Article ; Online: Faricimab in neovascular AMD: first report of real-world outcomes in an independent retina clinic.

Stanga, Paulo Eduardo / Valentín-Bravo, Francisco Javier / Stanga, Sebastian Eduardo Francis / Reinstein, Ursula Inge / Pastor-Idoate, Salvador / Downes, Susan M

Eye (London, England)

2023 Volume 37, Issue 15, Page(s) 3282–3289

Abstract: Purpose: Assess short-term real-world outcomes in neovascular aged-related macular degeneration (nAMD) treated with novel faricimab.: Methods: Retrospective case series of nine patients with nAMD (11 eyes) treated with faricimab between May and ... ...

Abstract	Purpose: Assess short-term real-world outcomes in neovascular aged-related macular degeneration (nAMD) treated with novel faricimab. Methods: Retrospective case series of nine patients with nAMD (11 eyes) treated with faricimab between May and November 2022. Treatment-naïve patients and non-naïve patients underwent logMAR best corrected visual acuity (BCVA), optical coherence tomography (OCT) DRI OCT-1 Triton (Topcon Corp, Tokyo, Japan), ultra-widefield (UWF) and fundus autofluorescence (FAF) (California Optomap, Optos plc, Dunfermline, Scotland, UK). Previous treatment intervals, number of intravitreal injections, sub/intra retinal fluid (SRF/IRF), central retinal thickness (CRT) and presence/changes in pigment epithelial detachments (PEDs) were recorded. Results: Mean baseline BCVA and CRT values of patients who switched from other agents were 0.612 ± 0.75 logMAR and 256.16 ± 12.98 µm respectively, with a mean 36-day previous treatment interval. The median number of other previous anti-VEGF intravitreal injections was 8. Mean BCVA at one month significantly improved to 0.387 ± 0.54 logMAR, as well as CRT values which decreased to 245.43 ± 15.34 µm. In the 3 naïve patients, mean baseline BVCA and CRT values were 0.33 ± 0.29 and 874.67 ± 510.86 µm, respectively. At one month follow-up, mean BCVA improved to 0.30 ± 0.29 logMAR and mean CRT was 536.04 ± 36.15 µm. Overall, a significant improvement in BCVA of 0.21 ± 41 logMAR and 238.44 ± 114.9 µm was achieved at one month after the first faricimab intravitreal injection. In addition, a complete resolution of SRF was observed in 6 out of 8 eyes (75%) and of IRF in 2 out of 3 eyes (66.67%), respectively. Drusenoid PED morphology changes were observed in all patients and no drug-related adverse events were observed. Conclusion: Real-world outcomes showed improvement in BCVA and anatomic parameters at an early timepoint, demonstrating the efficacy and durability of faricimab in nAMD patients. Larger numbers of patients and longer follow-up are needed to determine whether the loading dose is required in all, what percentage of patients experience an improvement, and whether improvement it is maintained.
Language	English
Publishing date	2023-03-23
Publishing country	England
Document type	Journal Article
ZDB-ID	91001-6
ISSN	1476-5454 ; 0950-222X
ISSN (online)	1476-5454
ISSN	0950-222X
DOI	10.1038/s41433-023-02505-z
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