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.

Genetic engineering: Unknown
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.

Breed: Domestic Shorthair.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below