Abstract

This is a Photo Essay and does not have an abstract. Please download the PDF or view the article in HTML.

Highlights

  • A 22-year-old female came to a cornea specialist in our center to do refractive surgery

  • Due to rapid loss of dark adaptation by a short light exposure, dark adapted fundus photo and ERG have been done in different visits but with same instruments

  • Genetic testing has shown a homozygous mutation in SAG (NM_000541.5) gene, variant c.874C>Tp.R292 which is compatible with type one Oguchi disease

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Summary

Oguchi Disease Associated with Keratoconus

Ahmad Mirshahi, MD1; Narges Hassanpoor, MD, MPH1; Hassan Khojasteh, MD1; Mohammad Reza Baradaran, MD2; Hooshang Faghihi, MD1; Alireza Lashay, MD1. Due to scissors motion and abnormal Pentacam (Figure 2), she has been diagnosed with keratoconus, her refractive surgery has been held, and corneal cross linking (CXL) was suggested to her. Both eyes optical coherence tomography (OCT) were completely normal but due to abnormal yellow sheen in her both eyes funduscopy, she was referred for further evaluation to us before CXL. She denied any night blindness or decreased vision in her both eyes. Oguchi disease diagnosis was made with presence of obvious Mizuo-Nakamura phenomenon (Figure 1) and was confirmed with

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