Myopia 1, X-linked, Nonsyndromal

Clinical Characteristics
Ocular Features: 

Nonsyndromal high myopia of -6D to -23D has been reported in multigenerational families.  No other ocular abnormalities have been found.  Detection is usually late in the first decade of life. 

Systemic Features: 

No systemic disease has been reported.

Genetics

Only males were reported to be highly myopic in two large multigenerational Indian families.  The transmission pattern was consistent with an X-linked recessive mode of inheritance.  Only males were affected and no male-to-male transmission was observed.  In another nonAsian family, 3 brothers with myopia had 5 myopic grandsons, all offspring of their daughters.  The daughters had low grade myopia not requiring correction.

The presumed locus for MYP1 is located at Xq28, in the same location as the presumed gene for Bornholm Eye Disease (300843) in which high myopia is also found.

Treatment
Treatment Options: 

No treatment beyond corrective lenses has been reported.

References
Article Title: 

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing

Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. Erratum in: Invest Ophthalmol Vis Sci. 2011 Oct;52(11):7909.

PubMed ID: 
21357393

X-linked form of myopia

Bartsocas CS, Kastrantas AD. X-linked form of myopia. Hum Hered. 1981;31(3):199-200.

PubMed ID: 
7262894

References

Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. Erratum in: Invest Ophthalmol Vis Sci. 2011 Oct;52(11):7909.

PubMedID: 21357393

Bartsocas CS, Kastrantas AD. X-linked form of myopia. Hum Hered. 1981;31(3):199-200.

PubMedID: 7262894