Publications by authors named "Brittany B DeNaro"

The prevalence of high myopia is rising globally. In addition to an increased risk of retinal detachment, high myopia is associated with earlier cataract formation. Patients with myopia are also often more motivated to become spectacle-independent after a lens procedure.

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A 41-year-old female presented to the Willis-Knighton Eye Institute to undergo evaluation for refractive surgery. The patient had a best-corrected visual acuity for a distance of 20/15-1 of the right eye (OD) and 20/15-1 of the left eye (OS) with a manifest refraction of -2.75 OD and -1.

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Purpose: To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene.

Methods: Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS.

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