Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

Figure 1

Spectral-domain optical coherence tomographic (SD-OCT) images of four categories in prediction of causative genes in inherited retinal disorders. For the purpose of this study, two most prevalent genes (ABCA4, PR1L1) for macular dystrophies and one most prevalent gene (EYS) for retinitis pigmentosa were selected from the dataset of Japan Eye Genetics Consortium. Characteristic morphological features are demonstrated in each spectral-domain optical coherence tomographic (SD-OCT) image. ABCA4 : disruption of photoreceptor layers with thinned sensory retina at the macula. RP1L1 : blurring of photoreceptor ellipsoid zone and loss of photoreceptor interdigitation zone at the macula. EYS : disruption of photoreceptor layers with thinned sensory retina at the paramacular with relatively preserved structure at the macula. Normal: normal retinal structures.

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