Sungsoon Hwang , Sohee Jeon , Je Moon Yoon , Se Joon Woo , Kwangsic Joo , Yong Je Choi , Chang Ki Yoon , Minjeong Kim , Hyuk Jun Lee , Suk Ho Byeon , Christopher Seungkyu Lee , Jehwi Jeon , Jin Yeong Kim , Jinu Han , Dongheon Surl , Min Sagong , Areum Jeong , Tae Kwann Park , Hyo Song Park , Mirinae Kim , Sang Jin Kim
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引用次数: 0
Abstract
Purpose
To describe in detail the genetic profile, clinical features, and genotype-phenotype correlation of retinitis pigmentosa GTPase regulator (RPGR)-associated X-linked retinitis pigmentosa (RP) in Koreans.
Design
A retrospective multicenter case series.
Methods
This study recruited genetically confirmed RPGR-associated X-linked RP patients from nine tertiary hospitals and clinics across Korea. Genetic profiles, age at night blindness onset, visual acuity (VA), visual field radius, ellipsoid zone (EZ) bandwidth, bone spicule pigmentation, fundus autofluorescence (AF) pattern, and genotype-phenotype correlation were analyzed.
Results
A total of 133 patients (104 males and 29 females from 107 families) with pathogenic or likely pathogenic RPGR variants were included. The majority of patients (86.5%) had truncating mutations and 72.9% of variants located in the open reading frame 15 regions. In male patients, night blindness onset occurred before the age of 20 in most patients (85%). Worse VA was associated with older age, with the estimated mean best-corrected VA reaching 20/200 by the age of 40 in male. More than half of the male patients in their 30s had the widest visual field diameter of less than 20°, and more than three-quarters of patients over 40 were classified in this category. Complete loss of the EZ band was rare before the age of 30; however, more than half of the patients in their 30s exhibited complete EZ band loss. Bone spicule pigmentation was uncommon before the age of 20 (10% of those under 10 and 35% in their teens), whereas peripheral hypoAF pattern was commonly observed after the age of 10 (22% of those under 10 and 81% in their teens). Female carriers generally exhibited a milder phenotype and showed significantly greater interocular asymmetry compared to males (all P < .001). Truncating variants were associated with worse VA and a higher risk of complete EZ band loss compared to nontruncating variants (P < .001 and P = .031, respectively).
Conclusions
This study provides a detailed genetic and age-specific clinical profile of RPGR-related X-linked RP, demonstrating significant differences in phenotypic severity based on the genotype. Our findings provide insights for estimating potential RPGR gene therapy candidate populations, supporting future clinical applications.
期刊介绍:
The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect.
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Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.