Case Presentation

A 34-year-old female patient presented for a retinitis pigmentosa (RP) follow-up complaining of worsening peripheral vision and blind spots in her central vision. The patient, diagnosed with RP at the age of 15, also has Usher Syndrome with hearing loss since age 1. Her sister has been diagnosed with RP and hearing loss as well. A vast array of inherited patterns have been linked to RP, with this patient heterozygous for two variants in the USH2A gene and also heterozygous in the PITPNM3 gene, although the latter is a variant of uncertain significance that can be associated with cone-rod dystrophy and is inherited in autosomal dominant fashion.

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Image Findings

Visual acuity and visual field tests are routinely conducted to monitor RP, as in this case. However, these tests are subjective, and alone are not enough to reliably indicate minor progression.

A series of multimodal imaging was performed using the Optos optomap ultra-widefield (UWF) system with red-green-blue (RGB) color imaging, fundus autofluorescence (FAF), and fluorescein angiography (FA). The UWF-RGB imaging helped support the visualization of bone spicules; a pallorous halo around the optic nerve; arteriolar attenuation; telangiectasia; and sclerotic vessels in both eyes, with no significant changes since last examination. The UWF-FAF added important information about the involvement of the peripheral retina, which is critical in a rod-dominant disorder like RP. Using OptosAdvance to compare, the UWF-FA images appeared worsened since last examination, with diffuse and punched-out hypopigmentation in the mid-periphery.

Liliya Sutherland, DO is an inherited retinal disease specialist and a vitreoretinal surgeon at Retina Specialists of Michigan in Grand Rapids. Following her medical education and retina fellowship, she had additional inherited retinal disease training at the Casey Eye Institute in Portland, Ore., in order to bring this area of expertise to West Michigan. This included training in the evaluation, diagnosis, and genetic counseling of those with a wide range of ophthalmic genetic disorders and how to distinguish them from other masquerading diseases.

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