Myopia 26, X-Linked, Female-Limited

Clinical Characteristics
Ocular 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.

Genetics

Heterozygous 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.

Treatment
Treatment Options: 

Correction of the refractive error improves vision.  Periodic eye examinations should be done to monitor for cataracts and retinal thinning.

References
Article Title: 

References

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.

PubMedID: 27829781