Retinitis pigmentosa: visual function and multidisciplinary management

Herse, Peter

doi:10.1111/j.1444-0938.2005.tb06717.x

Cited by 52 publications

(49 citation statements)

References 139 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…2 The 1 condition is progressive, with visual loss taking place over a number of years following the 2 presentation of initial symptoms. 1,2 Loss of peripheral vision leads to particular difficulty with 3 mobility, [3][4][5][6][7][8] but also leads to activity limitations in a range of other tasks such as reading 7,9 and visual 4 search. 3 …”

mentioning

confidence: 99%

Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa

Latham¹,

Baranian

Timmis³

et al. 2017

Optom Vis Sci

View full text Add to dashboard Cite

Purpose To determine the relative difficulty of activity of daily living tasks for people with retinitis pigmentosa (RP). Methods Participants with RP (n = 166) rated the difficulty of tasks (n = 43) underpinning the Dutch Activity Inventory goals of mobility indoors and outdoors, shopping, and using public transport. Demographic characteristics were also determined. Responses were Rasch analyzed to determine properties of the scale, derive unidimensional subscales, and consider differential item functioning (DIF). Results After removal of one ill-fitting item, the remaining 42 tasks formed a scale with reasonable Rasch parameters but poor unidimensionality. The most difficult tasks were orienting in poor and bright light both indoors and outdoors, and avoiding peripheral obstacles outdoors. Eight subscales were derived with unidimensional properties, each of which could be considered as requiring similar skills. DIF identified that tasks from the “poor light and obstacles” subscale were more difficult for those younger than the median age, nonusers of mobility aids, and those not registered or registered sight impaired. Tasks from the “finding products” and “public transport” subscales were more difficult for those older than the median age, with longer duration of visual loss, users of mobility aids, and those registered severely sight impaired. Conclusions The most difficult tasks for people with RP of orienting in poor light and avoiding peripheral obstacles are relatively more difficult for those not registered as “severely sight impaired,” but are less difficult for those who use mobility aids. Mobility aids (guide dog or cane), therefore, do benefit users in their perceived ability in these particular tasks. The derived unidimensional subscales reorganize the tasks from those grouped together by goal (researcher driven) to those perceived as requiring similar skills by people with RP (patient driven) and can be used as an evidence base for orientation and mobility training protocols.

show abstract

mentioning

confidence: 99%

Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa

Latham¹,

Baranian

Timmis³

et al. 2017

Optom Vis Sci

View full text Add to dashboard Cite

show abstract

“…With its high prevalence, ϳ1:4000, RP is regarded as the leading cause of blindness and visual disability among younger people in the developed world (Herse, 2005). Over 160 different mutations, encompassing genes coding for proteins with remarkably diverse functions, are known to cause RP (www.sph.uth.tmc.edu/retnet).…”

Section: Introductionmentioning

confidence: 99%

Excessive Activation of Poly(ADP-Ribose) Polymerase Contributes to Inherited Photoreceptor Degeneration in the Retinal Degeneration 1 Mouse

Paquet-Durand¹,

Silva²,

Talukdar³

et al. 2007

J. Neurosci.

128

135

View full text Add to dashboard Cite

Retinitis pigmentosa (RP) is an inherited blinding disease for which there is no treatment available. It is characterized by a progressive and neurodegenerative loss of photoreceptors but the underlying mechanisms are poorly understood. Excessive activation of the enzyme poly(ADP-ribose) polymerase (PARP) has recently been shown to be involved in several neuropathologies. To investigate the possible role of PARP in retinal photoreceptor degeneration, we used the retinal degeneration 1 (rd1) mouse RP model to study PARP expression, PARP activity, and to test the effects of PARP inhibition on photoreceptor viability. PARP expression was found to be equal between rd1 and wild-type counterpart retinas. In contrast to this, a dramatic increase in both PARP activity per se and PARP product formation was detected by in situ assays in rd1 photoreceptors actively undergoing cell death. Furthermore, PARP activity colabeled with oxidatively damaged DNA and nuclear translocation of AIF (apoptosis-inducing factor), suggesting activation of PARP as a bridge between these events in the degenerating photoreceptors. The PARP-specific inhibitor PJ34 [N-(6-oxo-5,6-dihydrophenanthridin-2-yl)-N,Ndimethylacetamide⅐HCl] reduced the number of cells exhibiting death markers in a short-term retinal culture paradigm, a protective effect that was translated into an increased number of surviving photoreceptors when the inhibitor was used in a long-term culture setting. Our results thus demonstrate an involvement of PARP activity in rd1 photoreceptor cell death, which could have a bearing on the understanding of neurodegenerations as such. The findings also suggest that the therapeutical possibilities of PARP inhibition should include retinal diseases like RP.

show abstract

“…This has a particular bearing for nerve cells because neuronal survival depends on neurotrophic factors released from surrounding tissues, and in the absence of such factors the neurons undergo programmed cell death (1). Hereditary degeneration of retinal photoreceptor cells is a major cause of blindness and often the result of mutations in phototransduction-relevant genes (2). Intriguingly although the mutations are present from beginning, the degeneration often does not occur until late in life.…”

mentioning

confidence: 99%

Identification of Paracrine Neuroprotective Candidate Proteins by a Functional Assay-driven Proteomics Approach

Hauck

Gloeckner

Harley

et al. 2008

Molecular & Cellular Proteomics

View full text Add to dashboard Cite

Glial cells support neuronal survival and function by secreting neurotrophic cytokines. Retinal Mueller glial cells (RMGs) support retinal neurons, especially photoreceptors. These highly light-sensitive sensory neurons receive vision, and their death results in blinding diseases. It has been proposed that RMGs release factors that support photoreceptor survival, but the nature of these factors remains to be elucidated. To discover such neurotrophic factors, we developed an integrated work flow toward systematic identification of neuroprotective proteins, which are, like most cytokines, expressed only in minute amounts. This strategy can be generally applied to identify secreted bioactive molecules from any body fluid once a recipient cell for this activity is known. Toward this goal we first isolated conditioned medium (CM) from primary porcine RMGs cultured in vitro and tested for survivalpromoting activity using primary photoreceptors. We then developed a large scale, microplate-based cellular high content assay that allows rapid assessment of primary photoreceptor survival concomitant with biological activity in vitro. Cell to cell communication is crucial for any multicellular organism. A major portion of these communication events relies on secreted proteins that act on neighboring cells as well as on target cells far from the source cell. This has a particular bearing for nerve cells because neuronal survival depends on neurotrophic factors released from surrounding tissues, and in the absence of such factors the neurons undergo programmed cell death (1). Hereditary degeneration of retinal photoreceptor cells is a major cause of blindness and often the result of mutations in phototransduction-relevant genes (2). Intriguingly although the mutations are present from beginning, the degeneration often does not occur until late in life. One explanation for such a delayed photoreceptor apoptosis may be the existence of paracrine, neurotrophic activities produced by the highly reactive support cells of the retina, the retinal Mueller glial cells (RMGs).1 Factors of this kind could be capable of upholding photoreceptor function for long periods even in diseased gene background, although finally the demand for support may exceed the supply upon which the balance shifts to cell death. As such, strategies to support degenerating photoreceptors via exogenously given recombinant neurotrophic factors are considered as a future treatment option to halt retinal degeneration and thereby preventing blindness.There are several reports suggesting the existence of neurotrophic molecules of RMG origin. Medium conditioned by chick retinal explants or by chick RMGs has been shown to

show abstract

Retinitis pigmentosa: visual function and multidisciplinary management

Cited by 52 publications

References 139 publications

Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa

Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa

Excessive Activation of Poly(ADP-Ribose) Polymerase Contributes to Inherited Photoreceptor Degeneration in the Retinal Degeneration 1 Mouse

Identification of Paracrine Neuroprotective Candidate Proteins by a Functional Assay-driven Proteomics Approach

Contact Info

Product

Resources

About