Genetic heterogeneity of day blindness in Alaskan Malamutes.

Day blindness is a progressive and specific degeneration of cone photoreceptors in the retina of young dogs. This disorder has been associated with a breed-specific non-synonymous substitution in exon 6 of the cyclic nucleotide gated channel beta3 (CNGB3) gene in German Shorthaired Pointer dogs and a genomic deletion removing the entire gene in Alaskan Malamute dogs from the USA. To further investigate this disorder, we characterized CNGB3 in a three-generation pedigree of Alaskan Malamute dogs from Australia segregating for day blindness. Fifteen of the dogs showed clinical signs of day blindness. Four of these were definitively diagnosed by standardized electroretinography. Polymerase chain reaction amplification of exon 6 of CNGB3 was attempted, and as expected, amplification was successful in the 18 unaffected or carrier dogs. However, a non-mutated exon 6 was also amplified and sequenced in six of the 15 affected dogs. On sequencing each exon and exon/intron boundary in two such affected individuals and two unaffected individuals, three exonic substitutions and 12 intronic changes were noted. These sequence variations in affected individuals were also present in one or both unaffected dogs and so appear to have no obvious effect on the protein's function. Hence, day blindness shows genetic heterogeneity within the Alaskan Malamute population of Australia, a result that is somewhat unexpected given the relatively small effective population size of this breed.

Primary glaucoma in Burmese cats.

OBJECTIVE: To document the clinical signs and management of primary glaucoma in Burmese cats. DESIGN: A retrospective study of six affected Burmese cats, from 1996 to 2001. Procedure Six Burmese cats diagnosed with primary glaucoma were managed over periods varying from 3 months to 4.5 years. Clinical details were obtained from practice records. Gonioscopic examination of the drainage or iridocorneal angle in eyes of these affected cats was made. RESULTS: Six desexed female Burmese cats (ages 7.0 to 10.5 years) presented with complaints of either unilateral (n = 4) or bilateral (n = 2) red eye, dilated pupil or enlarged eye. In one of the affected cats, one eye had been enucleated prior to the commencement of the study, thus a total of 11 eyes were examined. Clinically, all affected eyes (n = 8) had injected episcleral blood vessels and elevated intraocular pressure. Gonioscopy revealed the presence of nine narrow and two closed iridocorneal angles. Medical therapy included topical 2% dorzolamide (n = 8), 0.5% timolol maleate (n = 1), 0.005% latanoprost (n = 1) and 0.5-1.0% prednisolone acetate (n = 8). Surgery was performed in six eyes using either diode laser (n = 5) and/or cryothermy (n = 2) and one eye was eviscerated, with implantation of a prosthesis. With therapy, five affected eyes maintained vision and normal intraocular pressure, one eye remained blind with normal intraocular pressure, one eye remained blind with elevated intraocular pressure and one eye was eviscerated. CONCLUSIONS: The Burmese cat may be predisposed to primary narrow-angle glaucoma. Early diagnosis and continuous antiglaucoma therapy can help control intraocular pressure and maintain vision.