Background

Historically, CRX mutations have been associated with cone-rod dystrophy, cone dystrophy, Leber’s congenital amaurosis, and retinitis pigmentosa. There is recent emerging evidence of an adult-onset macular dystrophy phenotype. We review the published literature and discuss the first case of heterozygous CRX R90 W macular dystrophy.

Materials and Methods

The

patient received serial ophthalmic examination and imaging. Genetic testing was performed by MyRetinaTracker with the use of a retinal dystrophy panel.

Results

A 55-year-old Caucasian male patient without a prior medical history presented for evaluation of decreased vision in the right eye. Visual acuity was 20/32 both eyes, and his fundus examination was notable for an incomplete ring-shaped macular atrophy with foveolar sparing in both eyes. Fundus autofluorescence was notable for hypo-autofluorescence of the ring and fluorescein angiography for transmission hyperfluorescence. Full-field ERG and EOG were normal, while mfERG showed central depression. His lesion was clinically diagnosed as benign concentric annular macular dystrophy, but genetic testing revealed a heterozygous mutation in CRX (c.268 C > T, p.R90 W). A three-generation family tree did not reveal other members with known macular dystrophy. Given the lack of documentable autosomal dominant inheritance and the presence of a CRX mutation, the patient’s diagnosis was revised to adult-onset macular dystrophy.

Conclusions

We believe this to be the first case of adult onset macular dystrophy associated with heterozygous CRX R90 W mutation.

中文翻译：

---

杂合CRX R90W突变相关的成人发作性黄斑营养不良，其表型类似于良性同心环状黄斑营养不良。

背景

从历史上看，CRX突变与视锥细胞营养不良，视锥细胞营养不良，莱伯先天性黑ama病和色素性视网膜炎有关。最近出现了成人发作性黄斑营养不良表型的证据。我们回顾已发表的文献，并讨论第一例杂合性CRX R90 W黄斑营养不良。

材料和方法

的

患者接受了一系列的眼科检查和影像检查。MyRetinaTracker使用视网膜营养不良小组进行了基因检测。

结果

一名55岁高加索男性患者（无既往病史）被提出评估右眼视力下降。两只眼睛的视力均为20/32，并且他的眼底检查发现两只眼睛均出现不完整的环状黄斑萎缩，并有小叶韧带。眼底自发荧光显着表现为环的低自发荧光，而荧光素血管造影则表现为透射过荧光。全视野ERG和EOG正常，而mfERG显示中心性抑郁。他的病变在临床上被诊断为良性同心环形黄斑营养不良，但基因检测显示CRX中存在杂合突变（c.268 C> T，p.R90 W）。三代家谱没有发现其他成员患有黄斑营养不良。由于缺乏可记录的常染色体显性遗传，并且存在CRX突变，因此该患者的诊断被修改为成年发作的黄斑营养不良。

结论

我们认为，这是第一例一杂合子CRX R90W¯¯突变有关dult发病黄斑营养不良。