OMIA:000411-9986 : Glaucoma, generic in Oryctolagus cuniculus (rabbit)

In other species: Rhesus monkey , dog , domestic cat , tiger , horse , owls , Japanese quail

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 137700 (trait) , 137750 (trait) , 137760 (trait) , 137763 (trait) , 231300 (trait) , 231300 (trait) , 600510 (trait) , 600975 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Species-specific name: Also known as buphthalmia

Species-specific symbol: bu

Species-specific description: See Robinson (1958, p. 325)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000411-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Xia, Q., Zhang, D., Zhuang, Y., Dai, Y., Jia, H., Du, Q., Wen, T., Jiang, Y. :
Animal model contributions to primary congenital glaucoma. J Ophthalmol 2022:6955461, 2022. Pubmed reference: 35663518. DOI: 10.1155/2022/6955461.
2011 Edward, D.P., Bouhenni, R. :
Anterior segment alterations and comparative aqueous humor proteomics in the buphthalmic rabbit (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc 109:66-114, 2011. Pubmed reference: 22253484.
2007 Beit-Yannai, E., Trembovler, V., Solomon, A.S. :
Decrease in reducing power of aqueous humor originating from glaucomatous rabbits. Eye (Lond) 21:658-64, 2007. Pubmed reference: 16628237. DOI: 10.1038/sj.eye.6702353.
1999 Ueno, A., Tawara, A., Kubota, T., Ohnishi, Y., Inomata, H., Solomon, A.S. :
Histopathological changes in iridocorneal angle of inherited glaucoma in rabbits. Graefes Arch Clin Exp Ophthalmol 237:654-60, 1999. Pubmed reference: 10459615. DOI: 10.1007/s004170050293.
1998 Knepper, PA., Goossens, W., McLone, DG. :
Ultrastructural studies of primary congenital glaucoma in rabbits. J Pediatr Ophthalmol Strabismus 34:365-71, 1998. Pubmed reference: 9430063.
1995 Burrows, A.M., Smith, T.D., Atkinson, C.S., Mooney, M.P., Hiles, D.A., Losken, H.W. :
Development of ocular hypertension in congenitally buphthalmic rabbits Laboratory Animal Science 45:443-444, 1995. Pubmed reference: 7474889.
1991 Knepper, P.A., McLone, D.G., Goossens, W., Vanden Hoek, T., Higbee, R.G. :
Ultrastructural alterations in the aqueous outflow pathway of adult buphthalmic rabbits. Exp Eye Res 52:525-33, 1991. Pubmed reference: 2065722.
1987 Bunt-Milam, A.H., Dennis, M.B., Bensinger, R.E. :
Hereditary glaucoma and buphthalmia in the rabbit. Prog Clin Biol Res 247:397-406, 1987. Pubmed reference: 2446337.
Bunt-Milam, AH., Dennis, MB., Bensinger, RE. :
Optic nerve head axonal transport in rabbits with hereditary glaucoma. Exp Eye Res 44:537-51, 1987. Pubmed reference: 2439361.
1982 Fox, R.R., Eaton, H.D., Crary, D.D. :
Vitamin A, beta carotene, and hereditary buphthalmus in the rabbit. J Hered 73:370-4, 1982. Pubmed reference: 7153489.
Fox, R.R., Lam, K.W., Lewen, R., Lee, P. :
Ascorbate concentration in tissues from normal and buphthalmic rabbits. J Hered 73:109-11, 1982. Pubmed reference: 7096976.
Lam, K.W., Mansour, A.M., Fox, R.R., Lee, P., Smith, R. :
Fibrinogen concentration in the aqueous humor of buphthalmic rabbits. Curr Eye Res 2:153-7, 1982. Pubmed reference: 6817971.
1978 Lee, P.F., Fox, R., Henrick, I., Lam, W.K. :
Correlation of aqueous humor ascorbate with intraocular pressure and outflow facility in hereditary buphthalmic rabbits. Invest Ophthalmol Vis Sci 17:799-802, 1978. Pubmed reference: 567210.
1977 Fox, R.R., Lam, K.W., Coco, J.F. :
Effect of ascorbic acid on intraocular pressure of normal and buphthalmic rabbits. J Hered 68:179-83, 1977. Pubmed reference: 893992.
Van Horn, D.L., Hyndiuk, R.A., Edelhauser, H.F., McDonald, T.O., De Santis, L.M. :
Ultrastructural alterations associated with loss of transparency in the cornea of buphthalmic rabbits. Exp Eye Res 25:171-82, 1977. Pubmed reference: 913508.
1976 Geeraets, R., Barber, J.C. :
Corneal epithelium of buphthalmic rabbit eyes in cell culture. Exp Eye Res 23:373-4, 1976. Pubmed reference: 976378.
Lam, K.W., Lee, P., Fox, R. :
Aqueous ascorbate concentration in hereditary buphthalmic rabbits. Arch Ophthalmol 94:1565-7, 1976. Pubmed reference: 962666.
1973 Bennett, J., Bauer, J., Wu, C.K., Kolker, A.E. :
Recombination between buphthalmos and albino loci in the rabbit. J Hered 64:363-4, 1973. Pubmed reference: 4782848.
1972 Brown, J.L., Geeraets, W.J. :
The effect of hyaluronidase on the facility of outflow in normal and buphthalmic rabbits. Acta Ophthalmol (Copenh) 50:486-94, 1972. Pubmed reference: 4264057.
1971 Fox, R.R., Laird, C.W., Evans, R.W., Sheppard, L.B. :
Buphthalmia in the rabbit: glucose metabolism. J Hered 62:294-6, 1971. Pubmed reference: 5122375.
Noah, V.B., Geeraets, W.J. :
The effect of ascorbic acid on the facility of outflow in normal and buphthalmic rabbits. Acta Ophthalmol (Copenh) 49:410-7, 1971. Pubmed reference: 5171607.
1970 Harris, T.M., Sheppard, L.B., Shanklin, W.M., Fox, R.R. :
A comparison of carneal epithelium regeneration in normal and buphthalmic rabbits. Invest Ophthalmol 9:122-30, 1970. Pubmed reference: 4190044.
1969 Fox, R.R., Crary, D.D., Babino, E.J., Sheppard, L.B. :
Buphthalmia in the rabbit. Pleiotropic effects of the (bu) gene and a possible explanation of mode of gene action. J Hered 60:206-12, 1969. Pubmed reference: 5365620.
1968 Lee, P. :
Gonioscopic study of hereditary buphthalmia in rabbits. Arch Ophthalmol 79:775-8, 1968. Pubmed reference: 5652269.
1967 Babino, E.J., Fox, R.R. :
Buphthalmia in the rabbit: effect of age and repeated testing on the cornified cell count diagnostic technique. Proc Soc Exp Biol Med 126:216-7, 1967. Pubmed reference: 6066166.
McMaster, P.R., Macri, F.J. :
The rate of aqueous humor formation in buphthalmic rabbit eyes. Invest Ophthalmol 6:84-7, 1967. Pubmed reference: 6016389.
Sheppard, L.B., Shanklin, W.M., Fox, R.R. :
A comparison of the findings from the corneal epithelium of the normal and the buphthalmic rabbit eye. Trans Am Ophthalmol Soc 65:256-74, 1967. Pubmed reference: 4169897.
1965 Fox, R.R., Babino, E.J. :
BUPHTHALMIA IN THE RABBIT: A TEST FOR EARLY DIAGNOSIS. Proc Soc Exp Biol Med 119:229-33, 1965. Pubmed reference: 14297855.
1962 Hanna, B.L., Sawin, P.B., Sheppard, L.B. :
Recessive buphthalmos in the rabbit. Genetics 47:519-29, 1962. Pubmed reference: 13904370.
1952 Schmerl, E., Steinbert, B. :
The neurovascular mechanism controlling ocular tension in congenital glaucoma of rabbits. Am J Ophthalmol 35:696-701, 1952. Pubmed reference: 14923742.
1951 Greaves, D.P., Perkins, E.S. :
Buphthalmos in the rabbit. Br J Ophthalmol 35:232-3, 1951. Pubmed reference: 14830731.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 29 Apr 2016
  • Changed by Imke Tammen2 on 17 Sep 2022