Myopia 2, Autosomal Dominant, Nonsyndromal

Clinical Characteristics
Ocular Features: 

Nonsyndromal, high myopia (over 6 D) has been found in multiple multigenerational families.  Most individuals have no other ocular problems but a small percentage develop degenerative changes in the retina, particularly in the macula (Fuchs spot).  A few individuals have posterior staphylomas with significant vitreoretinal changes conferring higher risks of retinal detachments and macular holes.  Vitreous traction is often present.  The macula in such cases is may be thickened and microcystic with areas of frank retinoschisis.  Of course, vitreous degeneration and retinal detachments are well known sequelae of high myopia. 

Systemic Features: 

There are no systemic features by definition. 


Refractive errors are continuous traits with a wide range in most populations.  This suggests that many developmental and heritable (and perhaps environmental) components are responsible.  No specific mutation has been identified but a number of 'susceptibility' loci have been mapped.

Myopia 2 has been linked to a susceptibility locus at 18q11.31.

Evidence of heritability in both syndromal and isolated myopia comes from several sources.  For example, high myopia is a common feature in familial collagenopathies such as Marfan syndrome (154700), Kniest dysplasia (156550), and Stickler syndrome (108300). Multigenerational families with isolated myopia have been reported as well and mutations in multiple genes (at least 18) have been associated with these.  Heredibility studies using twin pairs have identified additional mutations (609256).  Further, the prevalence of myopia among children increases in the presence of parental myopia.

The transmission pattern in most families to which susceptibility loci have been linked is autosomal dominant.  However, a susceptibility locus has been mapped to 14q22.1-q24.2 in several families with good evidence for autosomal recessive inheritance (255500).  In addition, two loci on the X chromosome have been linked to presumed X-linked myopia (MYP1 [310460] at Xq28 and MYP13 [300613] at Xq23-q25).  A patient with high myopia has been reported with a mutation in the NYX gene on the X-chromosome.  This patient did not have congenital stationary night blindness of the type CSNB1A (310500) in which NYX is usually mutated.

Treatment Options: 

Correction of the refractive error is primary.  High myopes require periodic evaluation throughout life and prompt surgical intervention for retinal detachments.  In extreme myopia it may be especially prudent for individuals to avoid impact sports. 

Article Title: 


Yip SP, Li CC, Yiu WC, Hung WH, Lam WW, Lai MC, Ng PW, Fung WY, Chu PH, Jiang B, Chan HH, Yap MK. A novel missense mutation in the NYX gene associated with high myopia. Ophthalmic Physiol Opt. 2013 Feb. [Epub ahead of print].

PubMedID: 23406521

Hammond CJ, Andrew T, Mak YT, Spector TD. A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am J Hum Genet. 2004 Aug;75(2):294-304.

PubMedID: 15307048

Benhamou N, Massin P, Haouchine B, Erginay A, Gaudric A. Macular retinoschisis in highly myopic eyes. Am J Ophthalmol. 2002 Jun;133(6):794-800.

PubMedID: 12036671

Baba T, Ohno-Matsui K, Futagami S, Yoshida T, Yasuzumi K, Kojima A, Tokoro T, Mochizuki M. Prevalence and characteristics of foveal retinal detachment without macular hole in high myopia. Am J Ophthalmol. 2003 Mar;135(3):338-42.

PubMedID: 12614751