Long-Term Decline of Central Cone Function in Retinitis Pigmentosa Evaluated by Focal Electroretinogram

2012 ◽  
Vol 53 (12) ◽  
pp. 7701 ◽  
Author(s):  
Benedetto Falsini ◽  
Lucia Galli-Resta ◽  
Antonello Fadda ◽  
Lucia Ziccardi ◽  
Marco Piccardi ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Focal Electroretinogram ◽  
Cone Function ◽  
Central Cone

Comparing Rod and Cone Function with Fundus Autofluorescence Images in Retinitis Pigmentosa

2003 ◽  
pp. 41-47 ◽  
Author(s):  
Anthony G. Robson ◽  
Catherine Egan ◽  
Graham E. Holder ◽  
Alan C. Bird ◽  
Fred W. Fitzke
Keyword(s):  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Cone Function

scholarly journals Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1853
Author(s):  
Brian G. Ballios ◽  
Emily M. Place ◽  
Luis Martinez-Velazquez ◽  
Eric A. Pierce ◽  
Jason I. Comander ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Peripheral Vision ◽  
Visual Fields ◽  
Macular Disease ◽  
History Of ◽  
Intrafamilial Variability ◽  
Long Term Prognosis

Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have analyzed the spectrum of disease within a particular genotype. We identified all cases (9 patients) with an autosomal dominant Rhodopsin variant previously associated with sector RP (RHO c.316G > A, p.Gly106Arg) at our institution. Clinical histories were reviewed, and testing included visual fields, multimodal imaging, and electroretinography. Patients demonstrated a broad phenotypic spectrum that spanned regional phenotypes from sector-like to pericentral RP, as well as generalized disease. We also present evidence of significant intrafamilial variability in regional phenotypes. Finally, we present the longest-reported follow-up for a patient with RHO-associated sector-like RP, showing progression from sectoral to pericentral disease over three decades. In the absence of comorbid macular disease, the long-term prognosis for central visual acuity is good. However, we found that significant progression of RHO p.Gly106Arg disease can occur over protracted periods, with impact on peripheral vision. Longitudinal widefield imaging and periodic ERG reassessment are likely to aid in monitoring disease progression.

Long-term Outcomes of Cataract Surgery in Patients with Retinitis Pigmentosa

2021 ◽  
Author(s):  
Shun Nakamura ◽  
Kohta Fujiwara ◽  
Noriko Yoshida ◽  
Yusuke Murakami ◽  
Shotaro Shimokawa ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Cataract Surgery ◽  
Long Term Outcomes

scholarly journals Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

2011 ◽  
Vol 19 (2) ◽  
pp. 234-242 ◽  
Author(s):  
Ji-jing Pang ◽  
Xufeng Dai ◽  
Shannon E Boye ◽  
Ilaria Barone ◽  
Sanford L Boye ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Function

Long-term follow-up for efficacy and safety of treatment of retinitis pigmentosa with valproic acid

2013 ◽  
Vol 97 (7) ◽  
pp. 895-899 ◽  
Author(s):  
Sheena Bhalla ◽  
Deval Joshi ◽  
Shaminder Bhullar ◽  
Daniel Kasuga ◽  
Yeonhee Park ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Retinitis Pigmentosa ◽  
Efficacy And Safety ◽  
Long Term Follow Up

scholarly journals Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Edoardo Abed ◽  
Giorgio Placidi ◽  
Luigi Calandriello ◽  
Marco Piccardi ◽  
Francesca Campagna ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Negative Relationship ◽  
Macular Thickness ◽  
Stargardt Disease ◽  
Macular Function ◽  
Ellipsoid Zone ◽  
Focal Electroretinogram ◽  
Cone Function

Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG) recording while spectral domain optical coherence tomography (SD-OCT) imaging was performed to evaluate the integrity of photoreceptors. FERG amplitude was significantly reduced in patients with Stargardt disease (p<0.0001). The amplitude of FERG showed a negative relationship with interruption of ellipsoid zone (EZ) (R2=0.54, p<0.0001) and a positive correlation with average macular thickness (AMT). Conversely, visual acuity was only weakly correlated with central macular thickness (CMT) (R2=0.12, p=0.04). In conclusion, this study demonstrates that FERG amplitude is a reliable indicator of macular cone function while visual acuity reflects the activity of the foveal region. A precise assessment of macular cone function by FERG recording may be useful to monitor the progression of STGD1 and to select the optimal candidates to include in future clinical trials to treat this disease.

scholarly journals Optical coherence tomographic pattern and focal electroretinogram in patients with retinitis pigmentosa

Eye ◽  
2008 ◽  
Vol 23 (2) ◽  
pp. 299-303 ◽  
Author(s):  
A Oishi ◽  
H Nakamura ◽  
I Tatsumi ◽  
M Sasahara ◽  
H Kojima ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Optical Coherence ◽  
Focal Electroretinogram

scholarly journals Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

2015 ◽  
Vol 112 (43) ◽  
pp. E5844-E5853 ◽  
Author(s):  
William A. Beltran ◽  
Artur V. Cideciyan ◽  
Simone Iwabe ◽  
Malgorzata Swider ◽  
Mychajlo S. Kosyk ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Large Animal Model ◽  
Therapeutic Window ◽  
Large Animal ◽  
Visual Behavior ◽  
Rate Of Progression ◽  
Photoreceptor Neurons ◽  
Retinal Gene Therapy

Inherited retinal degenerations cause progressive loss of photoreceptor neurons with eventual blindness. Corrective or neuroprotective gene therapies under development could be delivered at a predegeneration stage to prevent the onset of disease, as well as at intermediate-degeneration stages to slow the rate of progression. Most preclinical gene therapy successes to date have been as predegeneration interventions. In many animal models, as well as in human studies, to date, retinal gene therapy administered well after the onset of degeneration was not able to modify the rate of progression even when successfully reversing dysfunction. We evaluated consequences of gene therapy delivered at intermediate stages of disease in a canine model of X-linked retinitis pigmentosa (XLRP) caused by a mutation in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene. Spatiotemporal natural history of disease was defined and therapeutic dose selected based on predegeneration results. Then interventions were timed at earlier and later phases of intermediate-stage disease, and photoreceptor degeneration monitored with noninvasive imaging, electrophysiological function, and visual behavior for more than 2 y. All parameters showed substantial and significant arrest of the progressive time course of disease with treatment, which resulted in long-term improved retinal function and visual behavior compared with control eyes. Histology confirmed that the humanRPGRtransgene was stably expressed in photoreceptors and associated with improved structural preservation of rods, cones, and ON bipolar cells together with correction of opsin mislocalization. These findings in a clinically relevant large animal model demonstrate the long-term efficacy ofRPGRgene augmentation and substantially broaden the therapeutic window for intervention in patients withRPGR-XLRP.

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