A heterozygous mutation in RPGR associated with X‐linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)

Abstract

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. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…In addition to associated eye problems that are thought to be directly due to Turner syndrome, women may have a co‐occurring diagnosis, especially X‐linked ocular disorders which manifest in women with Turner syndrome because of the single sex chromosome. Most commonly reported is X‐linked red‐green color blindness, as well as X‐linked retinitis pigmentosum (Jones et al, ; Zhou et al, ), X‐linked juvenile retinoschisis (Jones et al, ) and X‐linked congenital nystagmus. Dual diagnoses with eye problems have included Mendelian syndromes such as blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and Axenfeld‐Reiger syndrome, and a mitochondrial disorder Leber hereditary optic neuropathy (Jones et al, ).…”

Ocular Biometry in Primary Angle-Closure Glaucoma Associated with Retinitis Pigmentosa

“…In addition, Badeeb et al [ 9 ] believed that a strong association existed between angle-closure glaucoma and RP. The prevalence of PACG with RP in the Chinese population is higher than that in the Japanese population [ 10 , 11 ]. However, the relationship between glaucoma and RP remains controversial.…”

Clinical case report

“…In conclusion, the connection between GD and TS is far from elucidated, and we cannot exclude that the 2 diseases are just related by chance. [ 29 ] In our patient, treatment with thiamazole was continued and the thyroid function has stayed within normal ranges.…”