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

被引：127

作者：

Gill, Jasdeep S. ^{[1
]}

Georgiou, Michalis ^{[1
,2
]}

Kalitzeos, Angelos ^{[1
,2
]}

Moore, Anthony T. ^{[1
,3
]}

Michaelides, Michel ^{[1
,2
]}

机构：

[1] UCL, UCL Inst Ophthalmol, London, England

[2] Moorfields Eye Hosp NHS Fdn Trust, London, England

[3] Univ Calif San Francisco, Sch Med, Ophthalmol Dept, San Francisco, CA USA

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 2019年 / 103卷 / 05期

基金：

英国惠康基金;

关键词：

AUTOSOMAL-DOMINANT CONE; FUNDUS AUTOFLUORESCENCE ABNORMALITIES; CYCLASE-ACTIVATING PROTEIN-1; DEGENERATION SLOW RDS; STARGARDT DISEASE; RETINAL DEGENERATION; RETINITIS-PIGMENTOSA; MACULAR DYSTROPHY; ANIMAL-MODELS; OUTER SEGMENT;

D O I：

10.1136/bjophthalmol-2018-313278

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：711 / 720

页数：10

共 99 条

[1] The cone dysfunction syndromes [J].

Aboshiha, Jonathan ;

Dubis, Adam M. ;

Carroll, Joseph ;

Hardcastle, Alison J. ;

Michaelides, Michel .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2016, 100 (01) :115-121

[2] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [J].

Allikmets, R ;

Singh, N ;

Sun, H ;

Shroyer, NE ;

Hutchinson, A ;

Chidambaram, A ;

Gerrard, B ;

Baird, L ;

Stauffer, D ;

Peiffer, A ;

Rattner, A ;

Smallwood, P ;

Li, YX ;

Anderson, KL ;

Lewis, RA ;

Nathans, J ;

Leppert, M ;

Dean, M ;

Lupski, JR .

NATURE GENETICS, 1997, 15 (03) :236-246

[3] MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS Genotype-Phenotype Correlation [J].

Anand, Seema ;

Sheridan, Eamonn ;

Cassidy, Frances ;

Inglehearn, Chris ;

Williams, Grange ;

Springell, Kelly ;

Allgar, Victoria ;

Kelly, Thu-Lan ;

McKibbin, Martin .

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2009, 29 (05) :682-688

[4]

Beltran WA, 2014, COLD SPRING HARB PER, V5

[5] Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration [J].

Bryant, Laura ;

Lozynska, Olga ;

Maguire, Albert M. ;

Aleman, Tomas S. ;

Bennett, Jean .

CLINICAL OPHTHALMOLOGY, 2018, 12 :49-63

[6] Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene [J].

Burke, Tomas R. ;

Fishman, Gerald A. ;

Zernant, Jana ;

Schubert, Carl ;

Tsang, Stephen H. ;

Smith, R. Theodore ;

Ayyagari, Radha ;

Koenekoop, Robert K. ;

Umfress, Allison ;

Ciccarelli, Maria Laura ;

Baldi, Alfonso ;

Iannaccone, Alessandro ;

Cremers, Frans P. M. ;

Klaver, Caroline C. W. ;

Allikmets, Rando .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2012, 53 (08) :4458-4467

[7] Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease [J].

Carss, Keren J. ;

Arno, Gavin ;

Erwood, Marie ;

Stephens, Jonathan ;

Sanchis-Juan, Alba ;

Hull, Sarah ;

Megy, Karyn ;

Grozeva, Detelina ;

Dewhurst, Eleanor ;

Malka, Samantha ;

Plagnol, Vincent ;

Penkett, Christopher ;

Stirrups, Kathleen ;

Rizzo, Roberta ;

Wright, Genevieve ;

Josifova, Dragana ;

Bitner-Glindzicz, Maria ;

Scott, Richard H. ;

Clement, Emma ;

Allen, Louise ;

Armstrong, Ruth ;

Brady, Angela F. ;

Carmichael, Jenny ;

Chitre, Manali ;

Henderson, Robert H. H. ;

Hurst, Jane ;

MacLaren, Robert E. ;

Murphy, Elaine ;

Paterson, Joan ;

Rosser, Elisabeth ;

Thompson, Dorothy A. ;

Wakeling, Emma ;

Ouwehand, Willem H. ;

Michaelides, Michel ;

Moore, Anthony T. ;

Webster, Andrew R. ;

Raymond, F. Lucy .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) :75-90

[8] GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity [J].

Chen, Xue ;

Sheng, Xunlun ;

Zhuang, Wenjuan ;

Sun, Xiantao ;

Liu, Guohua ;

Shi, Xun ;

Huang, Guofu ;

Mei, Yan ;

Li, Yingjie ;

Pan, Xinyuan ;

Liu, Yani ;

Li, Zili ;

Zhao, Qingshun ;

Yan, Biao ;

Zhao, Chen .

GENETICS IN MEDICINE, 2017, 19 (08) :945-954

[9] Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease [J].

Chen, Yingming ;

Ratnam, Kavitha ;

Sundquist, Sanna M. ;

Lujan, Brandon ;

Ayyagari, Radha ;

Gudiseva, V. Harini ;

Roorda, Austin ;

Duncan, Jacque L. .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (06) :3281-3292

[10] Clinical features of codon 172 RDS macular dystrophy -: Similar phenotype in 12 families [J].

Downes, SM ;

Fitzke, FW ;

Holder, GE ;

Payne, AM ;

Bessant, DAR ;

Bhattacharya, SS ;

Bird, AC .

ARCHIVES OF OPHTHALMOLOGY, 1999, 117 (10) :1373-1383

← 1 2 3 4 5 6 7 8 9 10 →