The Peripapillary Retina - A Common Juncture in Stargardt Disease and Idiopathic Intracranial Hypertension.
Retinal cases & brief reports(2024)
摘要
PURPOSE:To present the multimodal imaging and functional exam findings in a case of combined Stargardt disease and idiopathic intracranial hypertension.
METHODS:The patient was evaluated with multimodal imaging including color fundus photography, short wavelength autofluorescence, spectral domain optical coherence tomography as well as functional testing such as Humphrey visual fields and full-field electroretinogram.
RESULTS:A 35-year-old woman was referred for evaluation of bilateral transient visual obscurations over the course of 2 months. Optic disc edema was observed in both eyes as well as a bulls-eye maculopathy with pisciform flecks. Magnetic resonance imaging and subsequent lumbar puncture confirmed a diagnosis of idiopathic intracranial hypertension. Fundus autofluorescence demonstrated hyperautofluorescent flecks surrounding both the macula and the disc. Genetic testing and full-field electroretinogram confirmed a diagnosis of Stargardt disease. Notably, the peripapillary retina was not spared as is frequently seen in Stargardt disease, possibly due to the impact of disc edema in the area. The patient was treated with increasing doses of acetazolamide and familial testing for Stargardt disease was recommended.
CONCLUSION:Both Stargardt disease and idiopathic intracranial hypertension are separately rare diseases with common anatomic intersection at the peripapillary retina. Stargardt disease typically spares the peripapillary retina; however, in the present case shows some evidence of peripapillary involvement. This finding suggests some relationship between disc edema due to idiopathic intracranial hypertension and the natural history of Stargardt disease.
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