Related Experiment Video
Updated: Mar 16, 2026
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Clinical and Genetic Features of Choroideremia in Childhood
Kamron N Khan1, Farrah Islam2, Anthony T Moore3
1University College London Institute of Ophthalmology, University College London, London, United Kingdom; Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom; Department of Ophthalmology, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom.
Insights
Choroideremia in children shows early RPE pigment clumping and peripapillary atrophy, with central vision maintained despite structural changes. These findings, including retinal thickness, can help monitor disease progression.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Choroideremia (CHM) is a rare X-linked genetic disorder causing progressive vision loss.
- It primarily affects males, leading to degeneration of the retinal pigment epithelium (RPE) and choroid.
- Understanding early disease manifestations in pediatric patients is crucial for timely intervention.
Purpose of the Study:
- To review the functional and anatomic characteristics of choroideremia in pediatric patients.
- To describe the earliest clinical features of the disease.
- To identify potential biomarkers for monitoring disease progression.
Main Methods:
- Retrospective case series of children diagnosed with choroideremia.
- Review of electronic patient records, clinical notes, and retinal imaging (CFP, SD-OCT, FAF).
- Analysis of genetic testing results (CHM sequencing).
Main Results:
- Twenty-nine pediatric patients (mean age 9 years) were studied; 15/19 had identified CHM mutations.
- Nyctalopia was common (66%), but 5/29 were asymptomatic at presentation.
- Early signs included RPE pigment clumping and peripapillary atrophy; central visual acuity was generally maintained.
- SD-OCT showed persistent inner retinal layers; subfoveal choroidal thickness decreased with age, while central retinal thickness increased.
Conclusions:
- Progressive structural changes in choroideremia occur early, often before significant visual function loss.
- Early pigmentary changes at the RPE level and peripapillary atrophy are key indicators.
- Peripapillary chorioretinal atrophy, central retinal thickness, and subfoveal choroidal thickness are potential biomarkers for monitoring disease progression in therapeutic trials.
Purpose:
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.
Design:
Retrospective case series.
Participants:
Children diagnosed with choroideremia at a single institution.
Methods:
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.
More Related Videos
10:24Detecting Abnormalities in Choroidal Vasculature in a Mouse Model of Age-related Macular Degeneration by Time-course Indocyanine Green Angiography
Published on: February 19, 2014
04:25Author Spotlight: Bridging Gaps in Anatomy and Establishing a Foundation for Algorithmic Studies
Published on: December 15, 2023
Related Concept Videos
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:24Chronic Kidney Disease II: Clinical Manifestations