PDE6-associated Retinitis Pigmentosa
A patient with a family history of vision loss presented with a 2 year history of progressive vision loss in both eyes. Patient’s exam was notable for visual acuity of 20/40 in the right eye and 20/30 in the left eye. Intraocular pressure was 20 and 21 in the right and left eye, respectively. Slit lamp exam was notable for posterior subcapsular cataracts in both eyes. Fundus exam was notable for mottling of the macula as well as peripheral pigmentary changes in both eyes. Imaging was performed including OCT and HVF 30-2 in both eyes. Imaging revealed loss of ellipsoid zone and peripheral visual field constriction in both eyes. Genetic testing was also obtained. Based on the clinical, imaging, and genetic findings, a form of retinitis pigmentosa was diagnosed. The patient may be a future candidate for current clinical trial for gene therapy if approved.
Presentation Date: 08/29/2024
Issue Date: 09/11/2024
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