Achromatopsia in three sibling Labrador Retrievers in the UK

Achromatopsia was identified in three Labrador Retriever littermates. The dogs demonstrated day blindness, negotiating obstacles under low‐light conditions, but apparently blind when outdoors. One of the dogs presented with immature bilateral diffuse posterior cortical cataracts and clinical signs of day blindness became apparent following cataract extraction surgery. Electroretinography demonstrated an absence of a cone photoreceptor response to a bright stimulus and a flicker response of 30 Hz in all three dogs. No fundic lesions have been apparent ophthalmoscopically in any of the dogs as the initial presentation of each case. No abnormalities were detected with DNA screening for known mutations of the CNGB3 gene in any of the dogs.     

The electroretinographic phenotype of dogs with Golden Retriever muscular dystrophy

Objective To characterize the flash electroretinogram (ERG) in the Golden Retriever muscular dystrophy (GRMD) dog and to compare the results with those from a control group of Golden Retrievers. To investigate whether similar abnormalities of the ERG as those found in a majority of human patients with Duchenne muscular dystrophy (DMD) are also observed in the GRMD dog, the canine model for DMD. Animals Five GRMD dogs and five age‐matched clinically normal Golden Retrievers. Procedure An ophthalmic examination was carried out prior to performing electroretinography under general anesthesia. Rod, combined rod–cone and oscillatory potentials responses were recorded after dark adaptation. Responses to 30‐Hz‐flicker were recorded after light adaptation. The ERG responses of the GRMD dogs were compared with those of the control dogs by use of a Wilcoxon signed rank test. Results GRMD dogs had significantly reduced a and b‐wave amplitudes after dim white flash stimuli (rod response) and reduced a‐wave amplitude after bright white flash stimuli (rod–cone response). Conclusion and clinical relevance The ERG abnormalities observed in the GRMD dog suggest a dysfunction in the rod signaling pathway. These ERG alterations are different from those observed in human patients with DMD.     

Day-blindness in three dogs: clinical and electroretinographic findings

A 6-month-old Rhodesian ridgeback-cross, a 6-year-old Chihuahua and a 12-month-old Australian cattle dog were presented to the authors with a history of colliding with obstacles in daylight. Ophthalmic examination was normal and all three dogs successfully negotiated obstacle courses in dim light. In daylight the dogs became suddenly blind and repeatedly collided with obstacles. Elecroretinography (ERG) revealed no retinal activity to high frequency (30 Hz), bright intensity blue light retinal stimulation by any dog, confirming cone dysfunction. Achromatopsia has previously been recorded in Alaskan malamutes and miniature poodles. This clinical case series illustrates the characteristic behavioral presentation and the electroretinographic findings of severe day-blindness and demonstrates that this condition may exist in other breeds of dogs.     

Congenital stationary night blindness in a Thoroughbred and a Paso Fino

This report documents congenital stationary night blindness (CSNB) in two non-Appaloosa horse breeds (Thoroughbred and Paso Fino). History of vision impairment since birth, normal ocular structures on ophthalmic examination, and electroretinographic findings were consistent with CSNB. In one horse (Thoroughbred), a 9-year follow-up was carried out. In the Paso Fino, severe vision impairment from birth to approximately 1 year of age in both dim and bright light situations led to humane euthanasia and histopathologic confirmation of the disorder.     

Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse

Objective To determine if congenital stationary night blindness (CSNB) exists in the miniature horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the miniature horse is associated with three single nucleotide polymorphisms (SNPs) in the region of TRPM1 that are highly associated with CSNB and LP in Appaloosas. Animals studied Three groups of miniature horses were studied based on coat patterns suggestive of LP/LP (n = 3), LP/lp (n = 4), and lp/lp genotype (n = 4). Procedures Horses were categorized based on phenotype as well as pedigree analysis as LP/LP, LP/lp, and lp/lp. Neurophthalmic examination, slit‐lamp biomicroscopy, indirect ophthalmoscopy, and scotopic flash electroretinography were performed on all horses. Hair samples were processed for DNA analysis. Three SNPs identified and associated with LP and CSNB in the Appaloosa were investigated for association with LP and CSNB in these Miniature horses. Results All horses in the LP/LP group were affected by CSNB, while none in the LP/lp or lp/lp groups were affected. All three SNPs were completely associated with LP genotype (χ² = 22, P << 0.0005) and CSNB status (χ² = 11, P < 0.0005). Conclusions The Miniature Horse breed is affected by CSNB and it appears to be associated with LP as in the Appaloosa breed. The SNPs tested could be used as a DNA test for CSNB until the causative mutation is determined.     

Ocular consequences of blunt trauma in two species of nocturnal raptors (Athene noctua and Otus scops)

Objective To determine the type, prevalence, and prognosis of ocular and periocular lesions in free‐living little owls (LO) and scops owls (SO), injured by blunt trauma. Procedures Medical records from LO and SO with ocular or periocular lesions secondary to blunt trauma were reviewed. A complete ophthalmic examination was performed in all birds. Short protocol electroretinography (ERG) and ocular ultrasound were performed as dictated by the case. Results During the study period, a total of 158 LO and 99 SO with blunt trauma were admitted. Among these, 43 LO (27.8%) and 27 SO (27.3%) had ocular or periocular lesions. Bilateral injuries (72.1% LO and 81.5% SO) were more common than unilateral. Common findings in both species were: corneal erosions/superficial ulcers, anterior and posterior uveitis, cataracts, hyphema, posterior synechia, vitreal hemorrhage, and retinal detachment. Electroretinography was performed in 32 LO and eight SO, which had posterior segment lesions or opacity of the transparent media. Normal to nonrecordable b‐wave amplitudes were observed. Follow‐up was available in 13 LO and 11 SO. Among these, nine LO (14 eyes) and 10 SO (17 eyes) had resolution of the clinical signs following medical treatment. Conclusions Ocular lesions are common in LO and SO injured by blunt trauma. Electroretinography is a valuable diagnostic tool to assess the severity of retinal dysfunction secondary to blunt trauma and to determine the response to medical treatment. A complete ophthalmic examination is a determining factor in the early management of trauma in these species.     

Retinal degeneration in nine Swedish Jämthund dogs

The Jämthund is the fourth most common breed in Sweden with approximately 1600 pups registered each year. Although it has been known that some adult dogs go blind, so they cannot hunt, the Jämthund dog has historically not been screened for hereditary eye diseases. This report describes nine Swedish Jämthund dogs with retinal degeneration. These dogs represent all Jämthund dogs diagnosed with progressive retinal atrophy (PRA) by the Swedish Eye Panel and registered with the Swedish Kennel Club from January 1998 to September 2008. The dogs were examined with indirect opthalmoscopy and slitlamp biomicroscopy. Additionally, electroretinograms (ERGs) following ECVO guidelines were performed in two dogs (one affected and one normal) and the eyes from three affected dogs were examined by light‐microscopy postmortem. Typical findings were bilateral symmetric generalized retinal degeneration with tapetal hyper‐reflectivity, attenuation of blood vessels and pigment clumping in the nontapetal fundus. These retinal findings progressed with time in two dogs after re‐examination. Visual impairment, especially under dim light conditions, was observed in the affected dogs. ERG from one affected dog showed profoundly reduced rod responses, whereas cone responses were better preserved. Microscopic changes in the eyes from three dogs were characterized by a severe diffuse predominantly outer retinal degeneration and atrophy. Re‐sequencing of the prcd‐gene for eight of the nine investigated dogs revealed that none of the individuals carried disease allele that has been associated with prcd‐PRA in other breeds. In conclusion, ophthalmoscopic, electroretinographic, and light‐microscopic alterations observed in nine Jämthund dogs were compatible with PRA. The prcd mutation was excluded as a cause of this retinopathy.