Clinical and Genetic Features of Choroideremia in Childhood

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• 作者：Kamron N. Khan ; PhD ; FRCOphth¹ ; ² ; ³ ; ^{medknk@leeds.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Farrah Islam ; FCPS ; FRCS² ; Anthony T. Moore ; FRCS ; FRCOphth¹ ; ² ; ⁴ ; Michel Michaelides ; MD(Res) ; FRCOphth¹ ; ²
• 关键词：ABCA4 ; ATP-binding cassette ; subfamily A ; member 4 ; BAF ; blue light autofluorescence ; CFP ; color fundus photography ; CNV ; choroidal neovascularization ; DC ; diopter sphere ; DS ; diopter cylinder ; FAF ; fundus autofluorescence ; OCT ; optical coherence tomography ; OMIM ; Online Mendelian Inheritance in Man ; ORT ; outer retinal tubulation ; REP-1 ; Rab escort protein-1 ; RPE ; retinal pigment epithelium ; SD ; spectral-domain
• 刊名：Ophthalmology
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：123
• 期：10
• 页码：2158-2165
• 全文大小：1536 K

文摘

To review the functional and anatomic characteristics of choroideremia in the pediatric population, aiming to describe the earliest features of the disease and to identify biomarkers useful for monitoring disease progression.

2">Design

Retrospective case series.

Participants

20">Children diagnosed with choroideremia at a single institution.

Methods

25">Patients were identified using an electronic patient record system. Case notes and retinal imaging (color fundus photography [CFP], spectral-domain [SD] optical coherence tomography [OCT], and fundus autofluorescence [FAF]) then were reviewed. The results of genetic testing also were recorded.

Main Outcome Measures

Presenting symptoms, visual acuity, fundus changes (CFP, SD OCT, FAF), and CHM sequencing results.

Results

Twenty-nine patients were identified with a mean age at referral of 9 years (range, 3–16 years). CHM mutations were identified in 15 of 19 patients tested. Nyctalopia was the predominant symptom (66%). Five of 29 patients were asymptomatic at presentation. At the final follow-up visit (mean age, 16 years; range, 7–26 years), most maintained excellent visual acuity (mean, 0.98±0.13 decimalized Snellen acuity). The first sign of retinopathy was widespread pigment clumping at the level of the retinal pigment epithelium (RPE). This later evolved to chorioretinal atrophy, most marked in the mid-peripheral retina. Peripapillary atrophy also was an early feature and was progressive in nature. Three different zones of FAF change were visible. Persistence of the inner retinal layers, detected by SD OCT, was visible at presentation in 15 of 27 patients. Subfoveal choroidal thickness decreased with age, whereas central retinal thickness increased over a similar interval. Four patients in whom visual acuity decreased over the follow-up period recorded a reduction in central retinal thickness.

Conclusions

Progressive structural changes occur at a time when central visual function is maintained. Pigmentary changes at the level of the RPE occur early in the disease course. Peripapillary chorioretinal atrophy, central retinal thickness, and subfoveal choroidal thickness are likely to be valuable in monitoring disease progression and should be considered as potential biomarkers in future therapeutic trials.