Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating
Retinitis pigmentosa (RP) is an inherited progressive retinal degenerative disease with an incidence of one in every 3,000 to 5,000 individuals [1]. Idiopathic demyelinating optic neuritis (IDON) is a demyelinating autoimmune disease of optic nerve, characterized by acute vision loss. There has been a report of monocular IDON in patients with RP only once before [2]. To the best of our knowledge, there have never been any reports of RP with bilateral IDON in Chinese people. This case presents a six-year-old Chinese boy with RP who had an episode of IDON and was detected with a mutation in oral-facial-digital syndrome 1 (OFD1) gene.

Case Report
A six-year-old boy had quickly progressive binocular vision loss in 38 days. On June 26, 2015, he complained of being unable to see grids in a notebook. Nine days later, his visual acuity (VA) was too weak for him to walk by himself. His first-visited hospital could not give a clear diagnosis and his visual function continued to deteriorate. There were no complaints of pain in his eyes or with eye movement; there was no history of respiratory tract infection or recent vaccination. However, mild night blindness had been noticed one year before. His family denied a history of hereditary disease. His parents did not have a consanguineous marriage.

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Dr. K●●●●●K M●●●●H
Dr. K●●●●●K M●●●●H Ophthalmology
Great website good work
Feb 21, 2017Like