OMIA 001774-9685 : Gyrate atrophy of choroid and retina in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 258870

Mendelian trait/disorder: unknown

Considered a defect: yes

Inheritance: Since the only known published report (Valle et al., 1981) described only one cat, there are no segregation data for this disorder in cats. Given that the cause of the disorder is an enzyme deficiency (see Clinical features below), it is reasonable to assume autosomal recessive inheritance.

Clinical features: The initial report (Valle et al., 1981) described "an adult male, domestic shorthaired cat of uncertain age and ancestry that . . . was presented for evaluation of suspected blindness and was found to have bilateral generalized retinal atrophy. Retinal thinning and vascular attenuation were present diffusely over both fundi." Amino-acid "screening of his urine revealed ornithinuria". Consistent with this observation, Valle et al. (1981) reported undetectable levels of the enzyme ornithine aminotransferase (OAT), which is indicative of gyrate atrophy of the choroid and retina.

Breed: Domestic shorthair.

References


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.
1989 Hotta, Y., Kato, T. :
Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse. Invest Ophthalmol Vis Sci 30:1173-7, 1989. Pubmed reference: 2567287.
1981 Valle, D.L., Boison, A.P., Jezyk, P., Aguirre, G. :
Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci 20:251-5, 1981. Pubmed reference: 7461927.

Edit History


  • Created by Frank Nicholas on 13 Apr 2013
  • Changed by Frank Nicholas on 13 Apr 2013