This 26YO female presented with progressive bilateral vision loss and photophobia. Vision was 20/60 OD and 20/200 OS. She had moderate hearing loss since birth, and denied any family history of eye disease.
Ultra-wide-field imaging reveals areas of nasal mid-peripheral bone spicules (intraretinal pigment migration) and ‘beaten-bronze’ macular atrophy.
There is a ring of hyper-autofluorescence surrounding each macula, which identifies at-risk retina for future degeneration. Fluorescence angiography (FA) shows variable window defects due to pigmentary changes, with diffuse peripheral vascular staining and leakage.
Learning Points:
The association with neurosensory deafness/hearing loss and retinitis pigmentosa (RP) is called Usher Syndrome. About 10% of children who are deaf/hearing impaired have RP.
Vascular leakage is not uncommon with inherited retinal diseases. Photoreceptors normally inhibit RPE cells, and photoreceptor damage allows for RPE intraretinal migration along retinal capillaries. Vascular endothelial cells adjacent to these translocated RPE cells are thin and fenestrated, similar to the choriocapillaris, and may be the cause of this vascular leakage (see Li et al, Ophthalmology 1995;102;8805-816).
