Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

Garafalo, Alexandra V.; Sheplock, Rebecca; Sumaroka, Alexander; Román, Alejandro J.; Cideciyan, Artur V.; Jacobson, Samuel G.

doi:10.1016/j.ebiom.2020.103200

Cited by 6 publications

(5 citation statements)

References 68 publications

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“…ERGs on family members with the GUCA1A mutation show reduced amplitudes in the 30 Hz flicker and photopic (cones) over scotopic (rod) response, as well as severely reduced bilateral P50 amplitudes on PERG [90,99]. Other ERG findings of cone dystrophy include implicit time delay with the 30 Hz cone flicker responses, delayed a-and b-wave photopic response, as well as decreased amplitudes of both a-and b-waves [90,100]. In CORDs, both rod and cone ERGs are abnormal with predominant cone abnormalities with delayed 30 Hz cone flicker ERG implicit time [17,101].…”

Section: Progressive Cone/cone-rod Dystrophymentioning

confidence: 99%

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Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

Haraguchi,

Chiang,

2023

JCM

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Inherited retinal dystrophies encompass a diverse group of disorders affecting the structure and function of the retina, leading to progressive visual impairment and, in severe cases, blindness. Electrophysiology testing has emerged as a valuable tool in assessing and diagnosing those conditions, offering insights into the function of different parts of the visual pathway from retina to visual cortex and aiding in disease classification. This review provides an overview of the application of electrophysiology testing in the non-macular inherited retinal dystrophies focusing on both common and rare variants, including retinitis pigmentosa, progressive cone and cone-rod dystrophy, bradyopsia, Bietti crystalline dystrophy, late-onset retinal degeneration, and fundus albipunctatus. The different applications and limitations of electrophysiology techniques, including multifocal electroretinogram (mfERG), full-field ERG (ffERG), electrooculogram (EOG), pattern electroretinogram (PERG), and visual evoked potential (VEP), in the diagnosis and management of these distinctive phenotypes are discussed. The potential for electrophysiology testing to allow for further understanding of these diseases and the possibility of using these tests for early detection, prognosis prediction, and therapeutic monitoring in the future is reviewed.

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Section: Progressive Cone/cone-rod Dystrophymentioning

confidence: 99%

“…ERG changes precede the decline in subjective visual functions [96], allowing for early detection. ERGs also can isolate signals of the two major photoreceptor types (rods and cones), which helps distinguish between the spectrum of diseases ranging from COD to CORD [100].…”

Section: Progressive Cone/cone-rod Dystrophymentioning

confidence: 99%

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

Haraguchi,

Chiang,

2023

JCM

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“…Furthermore, there is immense clinical heterogeneity associated with IRDs. The patients can present a spectrum of clinical manifestations ranging from congenital or juvenile-onset diseases (such as Leber congenital amaurosis; LCA and Stargardt Disease) to adulthood onset diseases, such as some forms of retinitis pigmentosa, rod-cone dystrophy and cone-rod dystrophy [9][10][11]. Retinal degeneration due to photoreceptor dysfunction is also commonly observed in autosomal recessive syndromic disorders, such as Usher Syndrome, Bardet-Biedl Syndrome, Senior-Loken Syndrome, and Joubert Syndrome [12,13].…”

Section: Gene Therapy For Retinal Diseasesmentioning

confidence: 99%

The Ocular Gene Delivery Landscape

2021

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The eye is at the forefront of developing therapies for genetic diseases. With the FDA approval of the first gene-therapy drug for a form of congenital blindness, numerous studies have been initiated to develop gene therapies for other forms of eye diseases. These examinations have revealed new information about the benefits as well as restrictions to using drug-delivery routes to the different parts of the eye. In this article, we will discuss a brief history of gene therapy and its importance to the eye and ocular delivery landscape that is currently being investigated, and provide insights into their advantages and disadvantages. Efficient delivery routes and vehicle are crucial for an effective, safe, and longer-lasting therapy.

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“…Although the clinical features and genetic cause of typical CD/CRD have been already studied including causative genes such as RPGR, ABCA4, AIPL1, CRX, GUCY2D, and so on [1,3,5], only a few cases of AOCD/ AOCRD have been reported, and its clinical and genetic features remain unestablished [4,6]. The clinical features of AOCD/AOCRD occurring after middle age can be similar to that of other retinal disorders including atrophic age-related macular degeneration (AMD), autoimmune retinopathy, drug-induced retinopathy, and so on.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy

Kim,

Woo,

Joo

2023

Ophthalmic Res

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Purpose: To investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals. Methods: This is single center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed. Results: The median age at the first visit was 52 years (range, 31 to 76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull’s eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p. Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs. Conclusion: In case of visual impairment with bull’s eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians.

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Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

Cited by 6 publications

References 68 publications

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

The Ocular Gene Delivery Landscape

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy

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