背景:博恩霍尔姆眼病(BED)是一种罕见的X连锁视锥功能障碍性疾病,伴有高度近视,弱视,和色觉缺陷。材料和方法:报告了一个家庭的视觉和眼部结果,其中五个兄弟姐妹中有两个在分子上确认了BED。眼科评估包括最佳矫正视力(BCVA),色觉测试,和光学相干断层扫描(OCT)。医疗记录,视网膜电图(ERG),和遗传分析进行了重新评估。结果:两名男性兄弟姐妹证实BED患有近视和近视。弟弟高度近视,低于正常的BCVA,和眼睛基底显示倾斜的椎间盘,月牙形的乳头周围萎缩,和可见的脉络膜血管。OCT证实视网膜和脉络膜萎缩。哥哥轻度近视,BCVA正常/低于正常,眼底有微妙的发现。两兄弟的ERG记录异常,视锥反应降低。它们还具有结构完整的OPN1LW/OPN1MW基因簇。OPN1LW基因显示在外显子3中携带有害的变体组合,已知会导致视蛋白mRNA的错误剪接,并被确认为LIAVA氨基酸描述(Leu153-Ile171-Ala174-Val178-Ala180),而OPN1MW基因外显子3显示非致病性变异组合(MVVVA)。另一个视力正常的兄弟在OPN1LW基因的外显子3中携带了另一个野生型变体组合(LVAIS)。结论:尽管基因型相同,但两个受影响的兄弟在表型上表现出很大的变异性。他们在OPN1LW的外显子3中提出了一种疾病相关的单倍型,该单倍型已被描述为BED的分子原因。
Background: Bornholm eye disease (BED) is a rare X-linked cone dysfunction disorder with high myopia, amblyopia, and color vision defects.Materials and methods: Visual and ocular outcomes in a family where two of five siblings had molecularly confirmed BED are reported. Ophthalmological assessments included best-corrected visual acuity (BCVA), color vision test, and optical coherence tomography (OCT). Medical records, electroretinography (ERG), and genetic analyses were re-evaluated.Results: Two male siblings had confirmed BED with myopia and protanopia. The younger brother had high myopia, subnormal BCVA, and ocular fundi that showed tilted discs, crescent shaped peripapillary atrophy, and visible choroidal vessels. OCT confirmed retinal and choroidal atrophy. The older brother was lightly myopic with normal/subnormal BCVA and subtle findings in the fundi. Both brothers had abnormal ERG recordings with a decreased cone response. They also had a structurally intact OPN1LW/OPN1MW gene cluster. The OPN1LW gene was shown to carry a deleterious variant combination in exon 3 known to result in mis-splicing of opsin mRNA and acknowledged as LIAVA amino acid delineation (Leu153-Ile171-Ala174-Val178-Ala180), while the OPN1MW gene exon 3 showed a non-pathogenic variant combination (MVVVA). Another normal-sighted brother carried another wildtype variant combination (LVAIS) in exon 3 of the OPN1LW gene.Conclusions: The two affected brothers demonstrated a large variability in their phenotypes even though the genotypes were identical. They presented a disease-associated haplotype in exon 3 of OPN1LW that has been described as the molecular cause of BED.