Myopia 26, X-Linked, Female-Limited Clinical CharacteristicsOcular Features: Affected females have high myopia with a tigroid fundus and temporal crescent of the optic nerve. The eyes have an axial length of greater than 26 mm and a spherical refraction of -6 diopters or greater which are present before the age of 7 years. Systemic Features: No systemic abnormalities have been found in this condition. GeneticsHeterozygous missense and nonsense mutations in the ARR3 gene (Xq13.1) have been found in several Chinese families in which only females were affected. Hemizygous males were not affected. TreatmentTreatment Options: Correction of the refractive error improves vision. Periodic eye examinations should be done to monitor for cataracts and retinal thinning. ReferencesArticle Title: X-linked heterozygous mutations in ARR3cause female-limited early onset high myopia Xiao X, Li S, Jia X, Guo X, Zhang Q. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. Mol Vis. 2016 Oct 26;22:1257-1266. eCollection 2016. PubMed ID: 27829781 Read more about Myopia 26, X-Linked, Female-Limited
X-linked heterozygous mutations in ARR3cause female-limited early onset high myopia Xiao X, Li S, Jia X, Guo X, Zhang Q. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. Mol Vis. 2016 Oct 26;22:1257-1266. eCollection 2016. PubMed ID: 27829781
