Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy

Purpose: To investigate the structural changes in the photoreceptors by adaptive optics (AO) fundus imaging and Fourier-domain optical coherence tomography (FD-OCT) in eyes with occult macular dystrophy (OMD). Design: Observational case reports. Methods: Eight eyes of four patients who were diagnosed with OMD were examined. All eyes had a complete ophthalmological examination. Multifocal electroretinograms (mfERGs) were recorded from all eyes. AO and FD-OCT images of foveal photoreceptors were obtained. Results: The best-corrected visual acuity (BCVA) of these eyes ranged from 20/20 to 20/200, and the ocular fundus was normal by conventional ocular examination in all eyes. The amplitudes of the mfERGs were decreased in the foveal area. The inner and outer segment (IS/OS) junction of the photoreceptors in the foveal area was disrupted. The IS/OS junction was intact in one eye with a BCVA of 20/20, and the outer segment layer between the IS/OS junction and retinal pigment epithelium of the FD-OCT images was identified only in the center of the fovea. The AO images showed patchy dark areas in all eyes, which indicated a disruption of the mosaic of bright spots in the fovea. Conclusion: Structural changes of photoreceptors in OMD patients were detected tangentially by FD-OCT and en face by AO.