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Wang, Yingwei; Sun, Wenmin; Xiao, Xueshan; Li, Shiqiang; Jia, Xiaoyun; Wang, Panfeng; Zhang, Qingjiong
American journal of ophthalmology, March 2021, 2021-03-00, 20210301, Letnik: 223Journal Article
To reveal the characteristics of ocular changes in patients with biallelic CRB1 mutations. Comparative exome sequencing and retrospective case series on clinical data. Seventy-four patients from 63 families with biallelic potential pathogenic variants in CRB1 were selected from our in-house exome sequencing. The clinical data were reviewed and evaluated in detail, including best-corrected visual acuity, fundus photography, optical coherence tomography (OCT), and electroretinogram (ERG). Biallelic CRB1 variants, involving 45 variants including 23 novel, were identified in 40 novel families based on exome sequencing. Analyzing clinical data of the 74 individuals from 63 families revealed the following CRB1-associated phenotypes: (1) early-onset reduced visual acuity with congenital nystagmus; (2) 2 types of characteristic retinal changes including yellowish geographic macular degeneration (YMD) or nummular pigment deposits (NPD) at posterior retina with bone-spicule pigmentation at midperipheral retina; (3) undetectable rod and cone responses on ERG; (4) cystoid macular edema or macular atrophy on OCT. YMD and NPD are unique and CRB1-associated. Long-term follow-up examination as well as age- and variant-dependent phenotypic analysis suggested YMD is the early fundus change that would gradually progress to NPD. YMD and NPD are 2 major characteristic CRB1-associated fundus changes and the former one will advance to the latter with age. Recognizing such characteristic signs associated with biallelic CRB1 variants may be of value in areas without widespread access to genetic testing where a more targeted approach is needed and might be biomarkers for evaluation of effects for future intervention. •Two types of CRB1-associated fundus changes were identified.•The progression of CRB1-characteristic fundus changes with age were found.•The correlations between the signature fundus of CRB1 and other CRB1-associated phenotypes were revealed.•The genotype-phenotype association of CRB1 variants was explored.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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