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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Eye Abnormalities

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Disease relevance of Eye Abnormalities


High impact information on Eye Abnormalities


Chemical compound and disease context of Eye Abnormalities


Biological context of Eye Abnormalities


Anatomical context of Eye Abnormalities


Gene context of Eye Abnormalities

  • Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product [18]?
  • In fierce mutants carrying human NR2E1, structural brain defects were eliminated and eye abnormalities ameliorated [19].
  • Developmental eye abnormalities were also background-dependent with B6129F1-frc mice having less severe thinning of optic layers and less affected electroretinogram responses [20].
  • We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma [21].
  • OBJECTIVE: To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations [22].


  1. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Willer, T., Prados, B., Falcón-Pérez, J.M., Renner-Müller, I., Przemeck, G.K., Lommel, M., Coloma, A., Valero, M.C., de Angelis, M.H., Tanner, W., Wolf, E., Strahl, S., Cruces, J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. Dziarmaga, A., Clark, P., Stayner, C., Julien, J.P., Torban, E., Goodyer, P., Eccles, M. J. Am. Soc. Nephrol. (2003) [Pubmed]
  3. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Vincent, M.C., Pujo, A.L., Olivier, D., Calvas, P. Eur. J. Hum. Genet. (2003) [Pubmed]
  4. Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. Cusano, R., Gangarossa, S., Forabosco, P., Caridi, G., Ghiggeri, G.M., Russo, G., Iolascon, A., Ravazzolo, R., Seri, M. Eur. J. Hum. Genet. (2000) [Pubmed]
  5. Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome. Farrell, S.A., Toi, A., Leadman, M.L., Davidson, R.G., Caco, C. Am. J. Med. Genet. (1987) [Pubmed]
  6. Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V., Hastie, N.D. Cell (1996) [Pubmed]
  7. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Zenker, M., Aigner, T., Wendler, O., Tralau, T., Müntefering, H., Fenski, R., Pitz, S., Schumacher, V., Royer-Pokora, B., Wühl, E., Cochat, P., Bouvier, R., Kraus, C., Mark, K., Madlon, H., Dötsch, J., Rascher, W., Maruniak-Chudek, I., Lennert, T., Neumann, L.M., Reis, A. Hum. Mol. Genet. (2004) [Pubmed]
  8. Distinct developmental programs require different levels of Bmp signaling during mouse retinal development. Murali, D., Yoshikawa, S., Corrigan, R.R., Plas, D.J., Crair, M.C., Oliver, G., Lyons, K.M., Mishina, Y., Furuta, Y. Development (2005) [Pubmed]
  9. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Longman, C., Mercuri, E., Cowan, F., Allsop, J., Brockington, M., Jimenez-Mallebrera, C., Kumar, S., Rutherford, M., Toda, T., Muntoni, F. Arch. Neurol. (2004) [Pubmed]
  10. Abnormalities of the visual system in infants exposed to cocaine. Good, W.V., Ferriero, D.M., Golabi, M., Kobori, J.A. Ophthalmology (1992) [Pubmed]
  11. Effects of H-2 and vitamin A on eye defects in congenic mice. Tyan, M.L. Proc. Soc. Exp. Biol. Med. (1992) [Pubmed]
  12. Effects of embryonic exposure to ethanol on zebrafish visual function. Bilotta, J., Saszik, S., Givin, C.M., Hardesty, H.R., Sutherland, S.E. Neurotoxicology and teratology. (2002) [Pubmed]
  13. Developmental disorders in embryos of the frog Xenopus laevis induced by chloroacetanilide herbicides and their degradation products. Osano, O., Admiraal, W., Otieno, D. Environ. Toxicol. Chem. (2002) [Pubmed]
  14. Evaluation of ocular health among alachlor manufacturing workers. Ireland, B., Acquavella, J., Farrell, T., Anne, M., Fuhreman, T. Journal of occupational medicine. : official publication of the Industrial Medical Association. (1994) [Pubmed]
  15. Ketoprofen in rheumatoid arthritis: its tolerance and therapeutic effect. Zutshi, D., Mason, M. Scand. J. Rheumatol. Suppl. (1976) [Pubmed]
  16. Morphological and genetic characteristics of the open-eyelid mutant spontaneously occurring in NC-strain mice. Teramoto, S., Fujii, S., Yoshida, A., Shirasu, Y. Jikken Dobutsu (1988) [Pubmed]
  17. Lens aplasia: a new mutation producing lens abnormality in the mouse. Aso, S., Horiwaki, S., Noda, S. Lab. Anim. Sci. (1995) [Pubmed]
  18. Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Aalfs, C.M., Fantes, J.A., Wenniger-Prick, L.J., Sluijter, S., Hennekam, R.C., van Heyningen, V., Hoovers, J.M. Am. J. Med. Genet. (1997) [Pubmed]
  19. Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1. Abrahams, B.S., Kwok, M.C., Trinh, E., Budaghzadeh, S., Hossain, S.M., Simpson, E.M. J. Neurosci. (2005) [Pubmed]
  20. Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent. Young, K.A., Berry, M.L., Mahaffey, C.L., Saionz, J.R., Hawes, N.L., Chang, B., Zheng, Q.Y., Smith, R.S., Bronson, R.T., Nelson, R.J., Simpson, E.M. Behav. Brain Res. (2002) [Pubmed]
  21. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Vasconcellos, J.P., Melo, M.B., Schimiti, R.B., Bressanim, N.C., Costa, F.F., Costa, V.P. Arch. Ophthalmol. (2005) [Pubmed]
  22. Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Mark, K., Reis, A., Zenker, M. Prenat. Diagn. (2006) [Pubmed]
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