OMIA:001774-9685 : Gyrate atrophy of choroid and retina in Felis catus (domestic cat)
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 258870 (trait)
Links to MONDO diseases: No links.
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
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.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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.|
- Created by Frank Nicholas on 13 Apr 2013
- Changed by Frank Nicholas on 13 Apr 2013