To evaluate the long-term clinical course and visual outcome of patients with choroideremia.
Clinical examination, a social questionnaire, and medical records review of 21 patients with choroideremia from 14 families.
The mean follow-up time was 25.2 years (SD: 13.3; range 2–57 years). The mean age at symptom onset was 15.1 years (SD: 10.1; range 5–40 years). Best-corrected visual acuity was stable until the age of 35 (P = 0.96), but declined significantly faster after the age of 35 (11%/year, P = 0.001), with a high variability between individual patients. The mean age at which patients discontinued working was 48.1 years (SD: 11.7, range 25–65 years). The reason for work discontinuation was vision related in 60% of cases. Most patients (70%) reported visual field constriction as the most debilitating symptom. The authors report scleral pits and tunnels as a novel finding visible on spectral domain optical coherence tomography and ophthalmoscopy.
Choroideremia is a severely debilitating disease showing a rapid decline of visual acuity generally after the age of 35, but a more gradual decline for other abnormalities.
In this study of the long-term clinical course in 21 patients with choroideremia, the visual acuity started to decline rapidly between the ages of 35 and 60, with no significant decline before the age of 35 years. Outer retinal tubulations and scleral pits or tunnels were common findings.
*Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands;
†Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands;
‡The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands; and
§Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Reprint requests: Sanne M. van Schuppen, MD, Department of Ophthalmology, Academic Medical Center, 1100 DD Amsterdam, The Netherlands; e-mail: firstname.lastname@example.org
Supported by Gelderse Blinden Stichting, Curing Retinal Blindness Foundation, Stichting Blindenhulp, Janivo Stichting.
Sanne M van Schuppen and Mays Talib are joint first authors on this paper. None of the authors has any conflicting interests to disclose.
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