Article
Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.
Human molecular genetics - 21 Jul 2022
Cui Xuan, Kim Hye Jin, Cheng Chia-Hua, Jenny Laura A, Lima de Carvalho Jose Ronaldo, Chang Ya-Ju, Kong Yang, Hsu Chun-Wei, Huang I-Wen, Ragi Sara D, Lin Chyuan-Sheng, Li Xiaorong, Sparrow Janet R, Tsang Stephen H
Abstract excerpt
Retinitis pigmentosa (RP) is caused by one of many possible gene mutations. The National Institutes of Health recommends high daily doses of vitamin A palmitate for RP patients. There is a critical knowledge gap surrounding the therapeutic applicability of vitamin A to patients with the different subtypes of the disease. Here, we present a case report of a patient with RP caused by a p.D190N mutation in Rhodopsin...
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