Duration 5min, Q&A 3min
High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy
To investigate the characteristics of microcystic macular edema (MME) determined from the en face images obtained by an adaptive optics (AO) fundus camera in patients with autosomal dominant optic atrophy (ADOA).
Six patients from 4 families with ADOA underwent detailed ophthalmic examinations.
Ophthalmic examinations including spectral domain optical coherence tomography (SD-OCT) were performed. Mutational screening of all coding and flanking intron sequences of the OPA1 gene was performed by DNA sequencing. High-resolution en face images of the fundus were obtained with a flood-illuminated AO fundus camera.
Results and Conclusion
All 6 patients had reduced visual acuity and palor of the temporal disc. SD-OCT showed a severe reduction in the retinal nerve fiber layer thickness. A new splicing-defect and two new frameshift mutations with premature termination of the Opa1 protein were identified in three families. A reported nonsense mutation was identified in one family. SD-OCT of one patient showed MME in the inner nuclear layer of the retina. AO images showed microcysts in the en face images of the inner retinal layer. Another patient also had similar microcystic structures in the AO images despite their absence in the SD-OCT images. Our findings implicate the possibility that MME is the results of retrograde trans-synaptic degeneration of cells in the inner nuclear layer of the retina. Our data indicate that AO is a useful method to identify MME in neurodegenerative diseases and may also help determine the mechanisms underlying the degeneration of the inner retinal cells and retinal nerve fiber layer.
[ Keyword ]
autosomal dominant optic atrophy, / spectral domain optical coherence tomography / microcystic macular edema / adaptive optics
[ Conflict of Interest ]