Macular Dystrophy Associated With the Arg172trp Substitution in Peripherin/RDS

Anand, Seema; Sheridan, Eamonn; Cassidy, Frances; Inglehearn, Chris F.; Williams, G.; Springell, Kelly; Allgar, Victoria; Kelly, Thu‐Lan; McKibbin, Martin

doi:10.1097/iae.0b013e318198dbed

Cited by 9 publications

(2 citation statements)

References 26 publications

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“…PRPH2 -associated CORD usually presents in the second to third decade with reduced central vision, photophobia and nyctalopia. Certain genotype–phenotype correlations have been observed, including p.(Arg172Trp)- PRPH2 retinopathy being associated with faster loss of visual acuity than the p.(Arg172Gln) variant 62…”

Section: Specific Examples Of Cod and Cordmentioning

confidence: 99%

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

et al. 2019

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Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.

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Section: Specific Examples Of Cod and Cordmentioning

confidence: 99%

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

et al. 2019

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“…We collected 245 PRPH2 variants identified in 720 index patients that were described in 165 articles up to July 2020, as well as their phenotypic information (Abouelhoda et al, 2016; Abu‐Safieh et al, 2013; Ahmad et al, 2010; Alapati et al, 2014; Anand et al, 2009; Anasagasti et al, 2013; Apfelstedt‐Sylla et al, 1995; Arai et al, 2015; Avela et al, 2019, 2018; Ba‐Abbad et al, 2019, 2014; Barbazetto et al, 2007; Bareil et al, 2000, 1997; Bayés et al, 1996; Birtel et al, 2018; Boon et al, 2009; Boon, Klevering, et al, 2007; Boon, van Schooneveld, et al, 2007; Boulanger‐Scemama et al, 2015; Budu et al, 2001; Carss et al, 2017; Cheng et al, 2019; Coco‐Martin et al, 2020; Coco et al, 2010; Consugar et al, 2015; Coussa et al, 2015; Daftarian et al, 2019; de Breuk et al, 2020; Deciphering Developmental Disorders Study, 2017; de Sousa Dias et al, 2015; Donoso et al, 2003; Downes et al, 1999; Downs et al, 2007; Dryja et al, 1997; Duncan et al, 2011; Duncker et al, 2015; Ekström, Andréasson, et al, 1998; Ekström, Ponjavic, et al, 1998; Ekström, Ponjavic, Andréasson, et al, 1998; Essilfie et al, 2018; Fakin et al, 2012; Farrar et al, 1992, 1991; Feist et al, 1994; Felbor et al, 1997; Fernandez‐San Jose et al, 2015; Fishman et al, 1994, 1997; Foote et al, 2019; Francis et al, 2005; Gamundi et al, 2007; Gao et al,…”

Section: Prph2 Variantsmentioning

confidence: 99%

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

et al. 2021

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Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 variants in eight additional index patients. The pathogenicity of all variants was determined using the ACMG guidelines. With this, 107 variants were classified as pathogenic, 92 as likely pathogenic, one as benign, and two as likely benign. The remaining 50 variants were classified as variants of uncertain significance. Interestingly, of the total 252 PRPH2 variants, more than half (n = 137) were missense variants. All variants were uploaded into the Leiden Open source Variation and ClinVar databases. Our study underscores the need for experimental assays for variants of unknown significance to improve pathogenicity classification, which would allow us to better understand genotype‐phenotype correlations, and in the long‐term, hopefully also support the development of therapeutic strategies for patients with PRPH2‐associated IRD.

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Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes

Georgiou

Michaelides

2022

Albert and Jakobiec's Principles and Practice of Ophthalmology

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Macular Dystrophy Associated With the Arg172trp Substitution in Peripherin/RDS

Abstract: This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.

Cited by 9 publications

References 26 publications

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Progressive and Stationary Disorders of Cone Function: Cone and Cone-Rod Dystrophies and Cone Dysfunction Syndromes

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