LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION

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Abstract

Purpose:

To evaluate the long-term clinical course and visual outcome of patients with choroideremia.

Methods:

Clinical examination, a social questionnaire, and medical records review of 21 patients with choroideremia from 14 families.

Results:

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.

Conclusion:

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.

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