The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Gene Review

NNO1  -  nanophthalmos 1

Homo sapiens

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of NNO1


High impact information on NNO1

  • We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors [5].
  • Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00 diopters [5].
  • Linkage analysis of a genome scan demonstrated highly significant evidence that nanophthalmos in this family is the result of a defect in a previously unidentified locus (NNO1) on chromosome 11 [1].
  • NNO1 is the first human locus associated with nanophthalmos or with an angle-closure glaucoma phenotype, and the identification of the NNO1 locus is the first step toward the cloning of the gene [1].
  • Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) [6].

Biological context of NNO1

  • METHODS: The records of consecutive patients with nanophthalmos who had cataract surgery from 1978 through 2002 were reviewed for ocular diagnoses, corneal diameter, keratometry, axial length, retinal-choroidal-scleral thickness determined by echography, ocular surgeries, visual acuity, and complications [7].
  • The small family size militates against achieving a LOD score of 3, but the haplotype data and the position of the putative MRCS locus within a known nanophthalmos locus are suggestive of linkage [8].

Anatomical context of NNO1

  • The modified glycosaminoglycan metabolism in scleral cells may be related to the abnormal packing of collagen bundles, which may in turn contribute to the thickening of sclera and the formation of nanophthalmos [9].
  • Three brothers were found to have nanophthalmos as evidenced by marked hyperopia, decreased global axial length, and shallow anterior chambers [10].
  • CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen [11].
  • Diffusely thickened choroid was detected ultrasonically in 207 eyes in various conditions, including: following intraocular surgery (108 eyes), trauma (8 eyes), phthisis bulbi (52 eyes), endophthalmitis (12 eyes), and nanophthalmos (27 eyes) [12].

Associations of NNO1 with chemical compounds

  • CONCLUSION: The results suggest that increased levels of GAGs, particularly of dermatan sulfate and chondroitin sulfate may contribute to the abnormalities of collagen fibrillogenesis and be closely involved with the pathogenesis of nanophthalmos [13].

Other interactions of NNO1


Analytical, diagnostic and therapeutic context of NNO1


  1. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Othman, M.I., Sullivan, S.A., Skuta, G.L., Cockrell, D.A., Stringham, H.M., Downs, C.A., Fornés, A., Mick, A., Boehnke, M., Vollrath, D., Richards, J.E. Am. J. Hum. Genet. (1998) [Pubmed]
  2. Autosomal dominant simple microphthalmos. Vingolo, E.M., Steindl, K., Forte, R., Zompatori, L., Iannaccone, A., Sciarra, A., Del Porto, G., Pannarale, M.R. J. Med. Genet. (1994) [Pubmed]
  3. Aqueous misdirection after glaucoma drainage device implantation. Greenfield, D.S., Tello, C., Budenz, D.L., Liebmann, J.M., Ritch, R. Ophthalmology (1999) [Pubmed]
  4. Management of strabismus in nanophthalmic patients: a long-term follow-up report. Sener, E.C., Mocan, M.C., Saraç, O.I., Gedik, S., Sanaç, A.S. Ophthalmology (2003) [Pubmed]
  5. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Sundin, O.H., Leppert, G.S., Silva, E.D., Yang, J.M., Dharmaraj, S., Maumenee, I.H., Santos, L.C., Parsa, C.F., Traboulsi, E.I., Broman, K.W., Dibernardo, C., Sunness, J.S., Toy, J., Weinberg, E.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  6. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Yardley, J., Leroy, B.P., Hart-Holden, N., Lafaut, B.A., Loeys, B., Messiaen, L.M., Perveen, R., Reddy, M.A., Bhattacharya, S.S., Traboulsi, E., Baralle, D., De Laey, J.J., Puech, B., Kestelyn, P., Moore, A.T., Manson, F.D., Black, G.C. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  7. Cataract surgery in patients with nanophthalmos: results and complications. Wu, W., Dawson, D.G., Sugar, A., Elner, S.G., Meyer, K.A., McKey, J.B., Moroi, S.E. Journal of cataract and refractive surgery. (2004) [Pubmed]
  8. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Reddy, M.A., Francis, P.J., Berry, V., Bradshaw, K., Patel, R.J., Maher, E.R., Kumar, R., Bhattacharya, S.S., Moore, A.T. The British journal of ophthalmology. (2003) [Pubmed]
  9. Nanophthalmic sclera. Morphologic and tissue culture studies. Yue, B.Y., Duvall, J., Goldberg, M.F., Puck, A., Tso, M.O., Sugar, J. Ophthalmology (1986) [Pubmed]
  10. Nanophthalmos with uveal effusion: clinical and embryologic considerations. Ryan, E.A., Zwaan, J., Chylack, L.T. Ophthalmology (1982) [Pubmed]
  11. Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. Buys, Y.M., Pavlin, C.J. Ophthalmology (1999) [Pubmed]
  12. Diffuse choroidal thickening detected by ultrasonography in various ocular disorders. Jalkh, A.E., Avila, M.P., Trempe, C.L., Schepens, C.L. Retina (Philadelphia, Pa.) (1983) [Pubmed]
  13. Biochemical studies of glycosaminoglycans in nanophthalmic sclera. Kawamura, M., Tajima, S., Azuma, N., Katsura, H., Akiyama, K. Graefes Arch. Clin. Exp. Ophthalmol. (1995) [Pubmed]
  14. Nanophthalmic sclera. Fibronectin studies. Yue, B.Y., Kurosawa, A., Duvall, J., Goldberg, M.F., Tso, M.O., Sugar, J. Ophthalmology (1988) [Pubmed]
  15. Bilateral nanophthalmos and pigmentary retinal dystrophy-an unusual syndrome. Proença, H., Castanheira-Dinis, A., Monteiro-Grillo, M. Graefes Arch. Clin. Exp. Ophthalmol. (2006) [Pubmed]
  16. Nanophthalmic sclera. Ultrastructural, histochemical, and biochemical observations. Trelstad, R.L., Silbermann, N.N., Brockhurst, R.J. Arch. Ophthalmol. (1982) [Pubmed]
  17. Nanophthalmos: ultrasound biomicroscopy and Pentacam assessment of angle structures before and after cataract surgery. Sharan, S., Grigg, J.R., Higgins, R.A. Journal of cataract and refractive surgery. (2006) [Pubmed]
  18. Abnormal collagen fibrils in nanophthalmos: a clinical and histologic study. Yamani, A., Wood, I., Sugino, I., Wanner, M., Zarbin, M.A. Am. J. Ophthalmol. (1999) [Pubmed]
  19. Cataract surgery with primary posterior chamber intraocular lens implantation in nanophthalmos. Mandal, A.K. Ophthalmic surgery and lasers. (2001) [Pubmed]
WikiGenes - Universities