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.


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.

Autosomal dominant
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.

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