Primary lens instability in ten related cats: clinical and genetic considerations

Abstract

These observations suggest an inherent zonular defect unrelated to extraneous factors. The family relationship is compatible with a possible genetic basis, and the pedigree suggests that the condition could be dominant. Data also suggest the mutation in the FBN1 gene could be responsible for primary lens luxation in this pedigree of cats.

Primary Lens Luxation in Australian Tenterfield and Miniature Bull Terriers is Due to An Old ADAMTS17 Mutation and is an Additive Trait

“…Interestingly, one of the reported mutations in humans with WMS-like syndrome is a homozygous G>A splice-site donor mutation in intron 12 of the gene which produces a truncated transcript, similar to the mutation in the canine orthologue which causes PLL. In contrast, mutations in the coding regions of the ADAMTS17 gene were excluded from association with primary lens instability in the cat, and the FBN1 gene has been suggested as a potential candidate gene in this species [29], suggesting that genetic causes of inherited lens dislocation may be different in dogs and cats.…”

Epidemiology and clinical presentation of feline cataracts in france: A retrospective study of 268 cases

“…Four cats included in this study were part of a family of domestic short-hairs with primary lens instability, which were fully described in a previous publication. 18 The inclusion of these cats with a rare inherited genetic disorder could have increased the prevalence for lens luxation-related cataracts in our population. Moreover, we cannot exclude a genetic basis of these cataracts rather than related to lens luxation pathogenesis.…”

“…Follow-up was available for 27 of 67 eyes (40.1%) with a median duration of 9 months (IQR [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]; range: 0.5-36 months). Evolution to hypermature cataracts was observed in two mature cataracts.…”

Lens-Related Emergencies: Not Always So Clear

“…16 Primary lens luxations in cats are rare and have only been described in the Siamese breed and in 10 related domestic shorthair cats. 16,17 Other reported causes include congenital microphakia and age-related zonular degeneration. 18 The average age of affected cats with anterior lens luxations is 7-9 years of age.…”