• Journal of Veterinary Clinics
• /
• v.21 no.2
• /
• pp.140-142
• /
• 2004

Thirty four dogs presented with generalized progressive retinal atrophy(gPRA) from September 2002 to April 2004 were reviewed to characterize signalments and prevalence rate in Korea. Mean age was 6.3$\pm$2.7 years-old and 59% was less than six years old. The most prevalent breed was Miniature Schnauzer (50%) and the affected mean age was slightly earlier (4.4$\pm$1.1 years-old). However, there was no sex predisposition. Cataract was confirmed in 15 dogs (44%) and 67% was bilateral.

• Journal of Animal Science and Technology
• /
• v.62 no.6
• /
• pp.765-776
• /
• 2020

The retinal degenerative disease, progressive retinal atrophy (PRA) is a major reason of vision impairment in canine population. Canine PRA signifies an inherently dissimilar category of retinal dystrophies which has solid resemblances to human retinis pigmentosa. Even though much is known about the biology of PRA, the knowledge about the intricate connection among genetic loci, genes and pathways associated to this disease in dogs are still remain unknown. Therefore, we have performed a genome wide association study (GWAS) to identify susceptibility single nucleotide polymorphisms (SNPs) of PRA. The GWAS was performed using a case-control based association analysis method on PRA dataset of 129 dogs and 135,553 markers. Further, the gene-set and pathway analysis were conducted in this study. A total of 1,114 markers associations with PRA trait at p < 0.01 were extracted and mapped to 640 unique genes, and then selected significant (p < 0.05) enriched 35 gene ontology (GO) terms and 5 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways contain these genes. In particular, apoptosis process, homophilic cell adhesion, calcium ion binding, and endoplasmic reticulum GO terms as well as pathways related to focal adhesion, cyclic guanosine monophosphate)-protein kinase G signaling, and axon guidance were more likely associated to the PRA disease in dogs. These data could provide new insight for further research on identification of potential genes and causative pathways for PRA in dogs.

• Journal of Veterinary Clinics
• /
• v.18 no.3
• /
• pp.215-225
• /
• 2001

This study presented the results of ophthalmic examinations performed on 545 Korean Jindo dogs. The most prevalent ocular variation within normal limits was hyoid vessel remnant (12.7%) and prominence of lens suture was also noticed (1.7%). The most common ocular diseases were retinal scars (6.8%), focal cataract (4.6%) and persistent pupillary membrane (4.2%). Inherited ocular diseases found in this study were persistent pupillary membrane (4.2%), persistent hyperplastic primary vitreous (0.6%), retinal dysplasia (0.6%), entropion (0.4%) and progressive retinal atrophy (0.4%). The prevalence of ocular diseases was higher in Male than in Female and proportionately higher in the older dogs. The most prevalence was shown in white coat color dogs. The fundus color changes according to the age was not related in coat colors and shown same pattern.

• Journal of Animal Science and Technology
• /
• v.63 no.1
• /
• pp.198-198
• /
• 2021

• Journal of Veterinary Clinics
• /
• v.24 no.2
• /
• pp.154-159
• /
• 2007

The objective of this retrospective study was to investigate the prevalence of retinal diseases in dogs presented to the Veterinary Medical Teaching Hospital, Seoul National University from April 2004 to December 2005. Sixty-five dogs (120 eyes) with retinal diseases involving blindness were included in this study. Age, breed, and gender data for all breeds were collected from medical records documenting vision loss. Generalized progressive retinal atrophy (gPRA) was the most common manifestation. Other prevalent findings included sudden acquired retinal degeneration (SARD) and retinal detachment (RD). Bilateral gPRA was found in 32 dogs with a female-to-male ratio of 1 : 1. The mean $age{\pm}SD$ of all dogs in this group was $4.66{\pm}2.30$ years with a range of 3 to 12 years. Breeds with highest prevalence of gPRA were Miniature Schnauzer (24/32, $mean{\pm}SD$ age: $3.79{\pm}0.78$ yr) and Poodle (2/32, $6.50{\pm}0.71$ yr). Twelve dogs (24 eyes) were diagnosed with SARD bilateraly, ranging from 3 to 13 years of age ($mean{\pm}SD:\;6.91{\pm}2.61$ yr). There were no abnormalities in fundus of 11 dogs at presentation. Electroretinography (ERG) without anesthesia was performed in 7 dogs, and all response was totally extinguished. Retinal detachment was identified in 21 dogs (32 eyes): 11 bilateral and 10 unilateral (7 right eye, 3 left eye). The most common breed was Shih Tzu (15/21, $mean{\pm}SD$ age: $4.39{\pm}3.24$ yr). Four other breeds comprised the remaining 6 cases (8 eyes). The everall mean age of the group was: $4.18{\pm}2.89$ years (range 0.8 to 14 years) with a female-to-male ratio of 1 : 1.1 (10 females, and 11 males).

• Annals of Clinical Neurophysiology
• /
• v.3 no.2
• /
• pp.151-155
• /
• 2001

SCA 1 is an autosomal dominant disorder. The phenotypic manifestations of SCA 1 are not specific, and thus, the diagnosis of SCA 1 rests on molecular genetic testing. The number of CAG repeats ranges from 6-44 in normal alleles and from 39-81 repeats in disease-causing alleles(chromosomal locus 6p22-23). The main clinical features of SCA 1 are ataxia, dysarthria, ophthalmoparesis, extrapyramidal signs without retinal degeneration. A 24-year-old woman with suspected family history presented with progressive cerebellar ataxia, dysarthria, ptosis, titubation and general weakness. Brain MRI revealed a moderate cerebellar atrophy. A genomic polymerase chain reaction(PCR) analysis showed 66 repeats at the SCA 1 locus.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.3
• /
• pp.95-98
• /
• 2018

A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.