Nanophthalmos 2
| Disorder | |
|---|---|
| OMIM #: | #609549 (Click to access OMIM database) |
| Disorder: | Nanophthalmos 2 |
| Also known as: | Nanophthalmos, autosomal recessive, NNO2 |
| Clinical | |
| Phenotype: | extreme hyperopia, visual axis is short with lensing components too close to the retina, thickening of both the choroidal vascular bed and scleral coat |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MFRP |
| Base Change: | c.1150dupC |
| Amino Acid Change: | p.His384Profs*8 |
| Last updated: | 2022-11-10 |
| References |
|---|
| Cross HE, Yoder F. (1976) Familial nanophthalmos. Am J Ophthal 81:300-306. PubMed ID: 1258954 |
| Sundin OH, Leppert GS, Silva ED, Yang J-M, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, DiBernardo C, Suness JS, Toy J, Weinberg EM. (2005) Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein. Proc Natl Acad Sci 102:9553-9558. PubMed ID: 15976030 |
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