Long anterior lens zonules in late-onset retinal degeneration
眼科
医学
变性(医学)
作者
Carolin Aizouki,Amit V. Mishra,Ian M. MacDonald
出处
期刊:Indian journal of ophthalmology [Medknow Publications] 日期:2024-04-01卷期号:4 (2): 607-607
标识
DOI:10.4103/ijo.ijo_3176_23
摘要
A 64-year-old male was evaluated for a suspected retinal dystrophy. When examined at the slit lamp, long anterior zonules (LAZs) were observed [Fig. 1a]. Posterior segment examination revealed atrophic changes in the posterior pole with corresponding areas of decreased autofluorescence on imaging [Fig. 1b and c]. A clinical diagnosis of late-onset retinal degeneration (L-ORD) was made; genetic testing revealed a pathogenic variant in the C1QTNF5 gene (c.489C>G), which confirmed the diagnosis. LAZs are zonules that extend past the lens equator and are characteristic of L-ORD.[1,2] This finding can manifest early, enabling prompt diagnosis before the development of retinal changes.Figure 1: Long anterior zonules visualized both in slit beam and retroillumination, with zonules extending to the pupillary axis (a). Color photograph of the posterior pole showing retinal degeneration (b) and corresponding autofluorescence image showing significant hypoautofluorescence in areas of degeneration (c)Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.