Abstract
Purpose:
To investigate whether patients with choroideremia have defects in retinal sensitivity prior to the onset of degeneration and how function correlates to fundus autofluorescence (FAF).
Methods:
Thirty-eight patients (72 eyes) with choroideremia underwent a complete ophthalmologic examination, including best-corrected visual acuity, microperimetry (Maia system), FAF and spectral-domain optical coherence tomography (Heidelberg Spectralis). The residual area of functioning retina was determined using FAF. The mean retinal sensitivities within the central 2 degrees of visual field were examined.
Results:
The area of autofluorescent retina ranged from 0.13 mm2 to 62 mm2 and correlated highly with the central retinal sensitivity (range 1-30 db) and age of the patient (13-63 years) (P <0.01). Central retinal sensitivity was reduced in all patients compared to controls, including those with normal visual acuity.
Conclusions:
Choroideremia is a progressive retinal and choroidal degeneration. The size of the area of surviving retinal tissue determined by FAF is a biomarker for disease progression. There is a functional deficit in retinal sensitivity in these patients which exists prior to the onset of degeneration and might therefore be partly reversible following successful gene replacement therapy.
Keywords: 758 visual fields •
696 retinal degenerations: hereditary •
550 imaging/image analysis: clinical