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 [1] 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 [2] 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
X-linked heterozygous mutations in ARR3cause female-limited early onset high myopia [2] 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
