Article
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).
American journal of medical genetics. Part A - 1 Jan 2018
Zhou Qi, Yao Fengxia, Wang Feng, Li Hui, Chen Rui, Sui Ruifang
Abstract excerpt
Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years....
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