Myopia 25, Autosomal Dominant, Nonsyndromic

Clinical Characteristics
Ocular Features: 

Myopia in the range of -6.00 to -31.01 diopters with onset before 10 years of age are the only ocular signs reported.

Systemic Features: 

No systemic signs have been reported.

Genetics

This nonsyndromic autosomal dominant condition results from heterozygous mutations in P4HA2 (5q31.1).  A three generation Chinese family has been reported.  A variety of other mutations in the same gene have been identified in sporadic cases.

Treatment
Treatment Options: 

Correction of refractive errors should be prescribed. Periodic ocular examinations are advised to detect evidence of retinal degeneration and to ensure that changes in refraction are corrected.

References
Article Title: 

References

Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med. 2015 Apr;17(4):300-6.

PubMedID: 25741866