Outer Retinal Abnormalities in a Patient with Danon Disease

To report outer retinal abnormalities evaluated using high-resolution imaging modalities in a patient with Danon disease.

Case report.

A 26-year-old woman, diagnosed with Danon disease based on genetic testing, was referred to our department for further evaluation of ocular findings. Her best-corrected VA was 20/20, and color vision was normal. Fundus examination revealed pigmentary changes consisting of mottled depigmentation and pigmentation in the peripheral retina of both eyes. Spectral-domain optical coherence tomography revealed disruptions of the ellipsoid and interdigitation zones, irregularity of the retinal pigment epithelium, and hyperreflectivity of the outer nuclear layer. In addition, an adaptive optics retinal camera demonstrated the ambiguous macular cone mosaic pattern.

Danon disease is caused by a primary deficiency in lysosomal associated membrane protein 2, an important constituent of the lysosomal membrane that plays a crucial role in the process of autophagy. It is possible that the findings of spectral-domain optical coherence tomography and adaptive optics retinal camera are early changes associated with the accumulation of autophagosomes and/or phagosomes due to lysosomal associated membrane protein 2 dysfunction in the photoreceptors, eventually followed by outer retinal degeneration, such as thinning of both the photoreceptor and retinal pigment epithelium layers at the fovea.