Entry - %612554 - MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 - OMIM - (OMIM.ORG)

 
ICD+
% 612554

MYOPIA 16, AUTOSOMAL DOMINANT; MYP16


Cytogenetic location: 5p15.33-p15.2   Genomic coordinates (GRCh38) : 5:1-15,000,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5p15.33-p15.2 Myopia 16 612554 2
Phenotypic Series
 


TEXT

▼ Description

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).

For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.

► Mapping

Using a genomewide scan and linkage analysis, Lam et al. (2008) investigated the genetic component of 3 Chinese pedigrees from Hong Kong with autosomal dominant high myopia. They found a maximum 2-point lod score of 4.81 at D5S2505 at theta = 0.00. Haplotype analysis narrowed the linkage region to 5p15.33-p15.2 with a 17.45-cM interval.


► REFERENCES

  1. Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457.

  2. Lam, C. Y., Tam, P. O. S., Fan, D. S. P., Fan, B. J., Wang, D. Y., Lee, C. W. S., Pang, C. P., Lam, D. S. C. A genome-wide scan maps a novel high myopia locus to 5p15. Invest. Ophthal. Vis. Sci. 49: 3768-2778, 2008. [PubMed: 18421076, related citations] [Full Text]


Creation Date:
Jane Kelly : 1/27/2009
Edit History:
carol : 11/08/2013
carol : 11/8/2013
mcolton : 11/8/2013
carol : 3/31/2011
carol : 1/27/2009
carol : 1/27/2009

% 612554

MYOPIA 16, AUTOSOMAL DOMINANT; MYP16


DO: 11830;   MONDO: 0012932;  


Cytogenetic location: 5p15.33-p15.2   Genomic coordinates (GRCh38) : 5:1-15,000,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5p15.33-p15.2 Myopia 16 612554 2

TEXT

Description

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).

For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.

Mapping

Using a genomewide scan and linkage analysis, Lam et al. (2008) investigated the genetic component of 3 Chinese pedigrees from Hong Kong with autosomal dominant high myopia. They found a maximum 2-point lod score of 4.81 at D5S2505 at theta = 0.00. Haplotype analysis narrowed the linkage region to 5p15.33-p15.2 with a 17.45-cM interval.


REFERENCES

  1. Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457.

  2. Lam, C. Y., Tam, P. O. S., Fan, D. S. P., Fan, B. J., Wang, D. Y., Lee, C. W. S., Pang, C. P., Lam, D. S. C. A genome-wide scan maps a novel high myopia locus to 5p15. Invest. Ophthal. Vis. Sci. 49: 3768-2778, 2008. [PubMed: 18421076] [Full Text: https://doi.org/10.1167/iovs.07-1126]


Creation Date:
Jane Kelly : 1/27/2009

Edit History:
carol : 11/08/2013
carol : 11/8/2013
mcolton : 11/8/2013
carol : 3/31/2011
carol : 1/27/2009
carol : 1/27/2009



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
Printed: May 19, 2026