Department of Ophthalmology, St James's University Hospital, Leeds, UK.
Eye (Lond). 2009 Mar;23(3):519-21. doi: 10.1038/eye.2008.427. Epub 2009 Feb 13.
To report phenotypic progression for a novel mutation in the RPGRgene causing X-linked retinitis pigmentosa (RP), and describe the phenotype in affected males and females.
Bidirectional fluorescent sequencing analysis was used to screen for mutations in RPGR. Five affected males and eight affected females from two English families underwent refraction, ETDRS visual acuity, OCT imaging, and Goldmann visual field testing.
DNA analysis identified a novel c.350G>A sequence change in exon 5 of RPGR. The change segregated with disease in both families. For affected males there was a significant correlation between age and visual acuity (r=-0.91, P=0.034), and a non-significant correlation between age and visual field area (r=-0.56, P=0.4). For affected females, there was a significant correlation between age and visual acuity (r=-0.8, P=0.018), and between age and visual field area (r=-0.94, P=0.005). All affected females were highly myopic. No correlation between retinal thickness, and either age or sex was noted.
This novel mutation in RPGRcauses X-Linked RP with complete penetrance in males and females. Affected females are highly myopic but retain better visual function than affected males. The phenotypic data can be used to provide a mutation-specific visual prognosis, and may also help recognition of the genotype.
报道一种导致 X 连锁性视网膜色素变性（RP）的 RPGR 基因突变的表型进展，并描述受影响男性和女性的表型。
采用双向荧光测序分析方法筛选 RPGR 基因突变。两个英国家系的 5 名男性受检者和 8 名女性受检者接受了屈光、ETDRS 视力、OCT 成像和 Goldmann 视野检查。
DNA 分析鉴定出 RPGR 外显子 5 中 c.350G>A 的新序列变化。该变化在两个家系中与疾病共分离。对于男性受检者，视力与年龄之间存在显著相关性（r=-0.91，P=0.034），而视野面积与年龄之间相关性不显著（r=-0.56，P=0.4）。对于女性受检者，视力与年龄之间存在显著相关性（r=-0.8，P=0.018），视野面积与年龄之间也存在显著相关性（r=-0.94，P=0.005）。所有女性受检者均高度近视。未观察到视网膜厚度与年龄或性别之间存在相关性。
RPGR 中的这种新突变导致男性和女性完全外显的 X 连锁性 RP。受影响的女性高度近视，但比男性受检者保留更好的视力功能。这些表型数据可用于提供特定突变的视力预后，并可能有助于识别基因型。
