Multimodal imaging in <i>CABP4-</i>related retinopathy

Schatz, Patrik; Elsayed, Maram E. A. Abdalla; Khan, Arif O.

doi:10.1080/13816810.2017.1289543

Cited by 10 publications

(9 citation statements)

References 10 publications

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“…Informed consent was obtained, and the study was approved by an institutional review board at King Khaled Eye Specialist Hospital, which is a nationwide tertiary referral centre, and at times also accepts referred patients from neighbouring countries. Ophthalmic examination including multimodal retinal imaging and full-field electroretinography (ERG) was done as described by us and others previously [14,15]. Goldman visual fields were performed using objects V4 and III4.…”

Section: Methodsmentioning

confidence: 99%

Late presentation of RPE65 retinopathy in three siblings

Magliyah

Saifaldein²,

Schatz

2020

Doc Ophthalmol

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Purpose Gene therapy for RPE65 retinopathy has been recently approved. The purpose of this study was to assess retinal structure and function in 3 siblings presenting with late-stage RPE65 retinopathy and to assess the unmet need for such therapy in Saudi Arabia. Methods Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal retinal imaging, full-field electroretinography (ERG), dark adapted Electronic supplementary material The online version of this article (

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Section: Methodsmentioning

confidence: 99%

Late presentation of RPE65 retinopathy in three siblings

Magliyah

Saifaldein²,

Schatz

2020

Doc Ophthalmol

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“…Numerous studies now point to genetic mutations in CaBP4 as causative factors in a set of related cone-rod retinopathies (Littink et al 2009;Aldahmesh et al 2010;Bijveld et al 2013;Hendriks et al 2017;Smirnov et al 2018). Multimodal imaging of five genetically characterized patients affected by CaBP4-related retinopathy showed a variable amount of photoreceptor dysfunction but this remained stable and did not deteriorate over a period of years (Schatz et al 2017). This has led to the hope that CaBP4-based retinopathies might be tractable to gene-therapy-mediated correction.…”

Section: Cabp Proteins and Diseasementioning

confidence: 99%

Calcium Sensors in Neuronal Function and Dysfunction

Burgoyne

Helassa

McCue

et al. 2019

Cold Spring Harb Perspect Biol

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Calcium signaling in neurons as in other cell types can lead to varied changes in cellular function. Neuronal Ca 2+ signaling processes have also become adapted to modulate the function of specific pathways over a wide variety of time domains and these can have effects on, for example, axon outgrowth, neuronal survival, and changes in synaptic strength. Ca 2+ also plays a key role in synapses as the trigger for fast neurotransmitter release. Given its physiological importance, abnormalities in neuronal Ca 2+ signaling potentially underlie many different neurological and neurodegenerative diseases. The mechanisms by which changes in intracellular Ca 2+ concentration in neurons can bring about diverse responses is underpinned by the roles of ubiquitous or specialized neuronal Ca 2+ sensors. It has been established that synaptotagmins have key functions in neurotransmitter release, and, in addition to calmodulin, other families of EF-hand-containing neuronal Ca 2+ sensors, including the neuronal calcium sensor (NCS) and the calcium-binding protein (CaBP) families, play important physiological roles in neuronal Ca 2+ signaling. It has become increasingly apparent that these various Ca 2+ sensors may also be crucial for aspects of neuronal dysfunction and disease either indirectly or directly as a direct consequence of genetic variation or mutations. An understanding of the molecular basis for the regulation of the targets of the Ca 2+ sensors and the physiological roles of each protein in identified neurons may contribute to future approaches to the development of treatments for a variety of human neuronal disorders.C alcium signaling in many cell types can mediate a diverse range of changes in cellular function affecting gene expression, cell growth, development, survival, and cell death. In addition, neuronal calcium signaling processes have become adapted to modulate the function of other important pathways in the brain, including neuronal survival, axon outgrowth (Spitzer 2006), and changes in synaptic strength (Catterall and Few 2008;Catterall et al. 2013).Changes in the concentration of intracellular free Ca 2+ ([Ca 2+ ] i ) are essential for the transmission of information through the nervous system as the trigger for neurotransmitter release at synapses. In addition, alterations in [Ca 2+ ] i can lead to a wide variety of different physiological changes that can modify neuronal functions over a range of time domains of milliseconds through 10 sec, to minutes to days or longer (Berridge 1998). It has long been believed that

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“…were described outer retinal thinning especially in the outer plexiform and photoreceptor layers. 1,9 Al Oreany et al were analyzed SD-OCT findings of two affected twin brothers diagnosed with complete CSNB with TRPM1 mutations and compared them with five myopic control eyes. 7 They did not find significant thinning in total retinal thickness compared to control group; however, they observed relative thinning of INL compared to other retinal layers.…”

Section: Discussionmentioning

confidence: 99%

Clinical Features and Spectral-Domain Optical Coherence Tomography Findings of Complete Congenital Stationary Night Blindness Patients

Aydin¹,

Özbek²,

Şentürk³

2018

Turkiye Klinikleri J Ophthalmol

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To describe clinical findings and spectral domain optical coherence tomography (SD-OCT) features of our complete congenital stationary night blindness (CSNB) patients. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : This retrospective study included 12 eyes of six patients diagnosed with complete type CSNB. Patients were evaluated with SD-OCT, fundus autofluorescence (FAF) and electrophysiological tests. Segmentation of retinal layers was performed on SD-OCT images of all CSNB patients and compared with 6 age matched, normal myopic controls. R Re es su ul lt ts s: : All patients' anterior segments findings were normal and none of our patients had nystagmus or strabismus. Pale optic disc was observed in two patients. On FAF imaging eyes with CSNB demonstrated unremarkable fundi including normal distribution of autofluorescence. Full-field electroretinography (ERG) demonstrated b-wave to a-wave amplitude ratio of less than one in the combined rod-cone response which describes electronegative ERG. SD-OCT segmentation revealed statistically significant thinning of the total retina, retinal nerve fiber layer (RNFL), inner plexiform layer (IPL) and inner retinal thicknesses in the CSNB group compared to control group (respectively p=0.015, p=0.011, p=0.017 and p=0.021). In the other layers of retina, we observed thinning in the CSNB group, but this difference was not statistically significant. C Co on nc cl lu us si io on n: : In our study we observed selective thinning of RNFL and IPL in our patients. We thought that thinning of the IPL and RNFL and possibly optic disc paleness in complete CSNB patients suggests bipolar cell dysfunction or synaptogenesis defect between bipolar cells and ganglion cells and possibly reduced number of these cells. K Ke ey yw wo or rd ds s: : Congenital stationary night blindness; optical coherence tomography; full-field electroretinography Ö ÖZ ZE ET T A Am ma aç ç: : Konjenital durağan gece körlüğü (KDGK) hastalarımızın klinik bulguları ve spektral domain optik koherens tomografi (SD-OKT) bulgularını tanımlamak. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Bu retrospektif çalışmaya, komplet tip KDGK tanısı alan altı hastanın 12 gözü dahil edildi. Hastalar SD-OKT, fundus otofloresans (FOF) ve elektrofizyolojik testlerle değerlendirildi. Tüm KDGK hastalarının SD-OKT görüntülerinde retinal tabakaların segmentasyonu yapıldı ve altı sağlıklı miyop kontrol ile karşılaştırıldı. B Bu ul lg gu ul la ar r: : Tüm hastaların anterior segment bulguları normaldi ve hastaların hiçbirinde nistagmus veya şaşılık yoktu. İki hastada optik disk soluk olarak gözlendi. FOF görüntülemede KDGK'lı gözlerde otofloresansın normal dağılımı ile birlikte normal fundus bulguları saptandı. Tam alan elektroretinografi (ERG), kombine rod-kon cevaplarında b dalgasının amplitüdünün a dalgasına oranının birden küçük olduğu elektronegatif ERG bulguları gösterdi. KDGK hastaları normal grupla karşılaştırıldığında SD-OKT segmentasyonunda total retina, retina sinir lifi tabakası (RSLT), iç pleksiform tabaka...

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Multimodal imaging in CABP4-related retinopathy

Abstract: Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.

Cited by 10 publications

References 10 publications

Late presentation of RPE65 retinopathy in three siblings

Late presentation of RPE65 retinopathy in three siblings

Calcium Sensors in Neuronal Function and Dysfunction

Clinical Features and Spectral-Domain Optical Coherence Tomography Findings of Complete Congenital Stationary Night Blindness Patients

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