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Retina/Uveitis Quiz 18
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Rosa Y Kim, MD | Massachusetts Eye and Ear Infirmary, Harvard Medical School

May 6, 1997
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Figure 1
This patient complained of worsening vision in both eyes, especially at night, which occurred over the course of years. He had no significant refractive error.
Questions
1. What is the most likely diagnosis?
2. What is the mode of inheritance in this disease?
3. What enzyme is reduced in this condition?
4. What is the natural history of this condition?
5. What therapies are available for this condition?
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