Myopia 2, Autosomal Dominant; Myp2

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). Genetic Heterogeneity of Susceptibility to MyopiaMYP2 maps to chromosome 18p. Other myopia loci include MYP1 (OMIM ) on Xq28; MYP3 (OMIM ) on 12q21-q23; MYP5 (OMIM ) on 17q21-q22; MYP6 (OMIM ), caused by mutation in the SCO2 gene (OMIM ) on 22q13; MYP7 (OMIM ) on 11p13; MYP8 (OMIM ) on 3q26; MYP9 (OMIM ) on 4q12; MYP10 (OMIM ) on 8p23; MYP11 (OMIM ) on 4q22-q27; MYP12 (OMIM ) on 2q37.1; MYP13 (OMIM ) on Xq23-q27; MYP14 (OMIM ) on 1p36; MYP15 (OMIM ) on 10q21.1; MYP16 (OMIM ) on 5p15.33-p15.2; MYP17 (formerly MYP4) (OMIM ) on 7p15; MYP18 (OMIM ) on chromosome 14q22-q24; MYP19 (OMIM ) on 5p15.1-p13.3; MYP20 (OMIM ) on 13q12.12; MYP21 (OMIM ), caused by mutation in the ZNF644 gene (OMIM ) on 1p22; MYP22 (OMIM ), caused by mutation in the CCDC111 gene (OMIM ) on 4q35; MYP23 (OMIM ), caused by mutation in the LRPAP1 gene (OMIM ) on 4p16; MYP24 (OMIM ), caused by mutation in the SLC39A5 gene (OMIM ) on 12q13; MYP25 (OMIM ), caused by mutation in the P4HA2 gene (OMIM ) on 5q31; and MYP26 (OMIM ), caused by mutation in the ARR3 gene (OMIM ) on Xq13.

Clinical Features

• Cataract
• Myopia
• Glaucoma
• Abnormality of the nervous system
• Retinal detachment
• High myopia
• Macular degeneration