Article

Hereditary cataract in the German Shepherd Dog

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Abstract

Primary hereditary cataract is recorded and described in the German Shepherd Dog in the United Kingdom. The cataract is not congenital, it is bilateral and progressive to a certain point and is unassociated with any other ocular abnormality. It is due to an autosomal, recessive gene. The cataract is compared to that described by von Hippel in Germany in 1930 which was congenital and non-progressive and due to a dominant gene. The two types of cataract are therefore dissimilar.

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... The significant prevalence of cataract involving the nuclear part of the lens reported here strongly indicates that this type of cataract is inherited in Bengal cats bred in Poland. In other feline breeds where cataract involving nuclear material has been reported the term congenital has been used, but elsewhere it has been suggested that such opacities may either be congenital or early onset in development [12,26,27]. In our study involving 67 Bengal cats with nuclear cataract there were 10 kittens aged under 5 months, confirming a very early development of the cataract whilst not denying a possible congenital origin. ...
... In the Russian Blue study the youngest individual was 3 months of age. For the French Bengal cat survey the youngest cat in the observational study part of the programme was 9 months of age and in the referral group of 12 cats there were four three month old kittens [12,26]. Older cats were involved in both parts of the study but the later ages at which the cats were examined do not indicate the age at which the cataracts may have developed. ...
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Background: This paper reports the significant prevalence of a presumed hereditary cataract in the Bengal cat breed in Poland. The nuclear part of the lens is affected and previous reports from Sweden and France for this type of feline cataract suggest that a recessive mode of inheritance is probably involved. Results: Presumed congenital or neonatal cataract involving the posterior nuclear part of each lens was initially diagnosed in a 12 month old male Bengal cat. As both parents and a sibling were also affected with cataract, a group of 18 related and 11 non-related cats was then subsequently examined. Eight related cats and one non-related cat were found to be similarly affected. A breed survey was then completed using an additional five centres across Poland and a further 190 related cats were examined. A total of 223 cats have been involved in this study, with 75 (33%) being affected with several types of cataract and 67 (30%) being specifically affected with the same or similar nuclear lesions. Eight cats (3.6%) presented with other cataract types and a prominence of the posterior lens suture lines was recorded in 65 cats unaffected with cataract (29%). There were no demonstrable vision problems. Neither age nor coat colour was significantly associated with the nuclear cataract, but the nuclear cataract group had a higher proportion of females than the unaffected group. Pedigree analysis has indicated probable inheritance as a recessive trait. Conclusions: These findings suggest that a presumably inherited nuclear cataract is present in the Bengal cat breed in Poland. It is considered to be either congenital or of very early onset, probably being inherited as a recessive trait. Although the lesion has no noticeable effect on vision, breeders in Poland and worldwide should be aware of the disease and clinical examination of young breeding stock prior to reproduction is advisable.
... Of the 23 affected cats in the observational study population, eight cats (from two breeders and five pet cat-owners) were re-examined at an interval of between 1 and 1.6 years after the initial diagnosis (case 7,11,12,13,14,16,21,22). Initial cataract location within the lens was nuclear in four cats (eight eyes); focal in three cats (six eyes); posterior axial nuclear in one cat (two eyes); and posterior subcapsular in five cats (nine eyes). ...
... A congenital cataract is defined as a cataract present at birth and obvious as soon as the eyes are open. 22 The conventional manifestation is a nuclear cataract with occasional adjacent cortical involvement that is generally nonprogressive. 23 These congenital cataracts may or may not be associated with other ocular abnormalities such as coloboma, microphthalmia, PHPV/PHTVL, persistent pupillary membrane (PPM), and retinal dysplasia. ...
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Objective: To document the clinical appearance and prevalence of cataracts in a French population of Bengal cats. Methods: Two distinct populations of Bengal cats were examined as follows: (i) 51 animals recruited for evaluation of national prevalence of ocular diseases in an observational study conducted between October 2014 and November 2016 at the Alfort ophthalmology unit; (ii) 12 patients referred for cataract diagnosis examined at a veterinary eye clinic located in central France, between December 2014 and February 2016. Buccal swabs or blood samples for DNA analysis were collected from all patients. The pedigrees of the examined Bengal cats were also investigated. Results: Cataracts were diagnosed in 23 of 51 (45%) cats in the observational study and in all cats in the referral population, mostly bilaterally. Visual impairment was never reported. Age of subjects affected by cataracts ranged from 3 months to 9.6 years (median: 1.9 years). Cataracts were classified as nuclear cataracts (14 of 23 in the observational group and 12 of 12 in the referral group) with a focal, perinuclear, posterior, or complete nuclear pattern, or posterior polar subcapsular cataracts (10 of 23 only in the observational group). An inherited congenital origin appears to be the most likely hypothesis. The pedigree analysis suggests a hereditary component of cataract formation, but further analyses in a larger population or test matings are needed to determine the exact mode of inheritance. Conclusion: Presumed inherited cataracts appear to have a high prevalence in Bengal cats in France. The main manifestations are nuclear or subcapsular form, mostly bilateral, symmetrical, and apparently nonprogressive.
... For guide dogs, eye diseases have been ascribed to constitute 3.2% of early retirement from service (Caron-Lormier et al., 2016b). Some breeds that are commonly used as working dogs have a predisposition to heritable or acquired ophthalmic disorders that can cause progressive vision loss that may go unnoticed by the handlers, trainers, or owners; until it, there is moderate-to-advanced visual impairment (e.g., corneal disease, cataracts, and progressive retinal atrophy) (Barnett, 1986;Curtis and Barnett, 1989;Kommonen et al., 1997;Kraijer-Huver et al., 2008;Jokinen et al., 2011;Takanosu, 2017). In addition, some working breeds can spontaneously develop refractive errors (myopia or hyperopia) that can have a significant impact on visual acuity (Murphy et al., 1992;Mutti et al., 1999;Soares et al., 2004;Black et al., 2008;Kubai et al., 2008Kubai et al., , 2013Williams et al., 2011). ...
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Background: Working dogs, such as police dogs and guide dogs, have important roles in the contemporary society by performing specific and demanding jobs. Ocular health and the maintenance of good visual acuity are imperative to strong work performance and thus human safety. Aim: The aim of this study was to assess ophthalmic abnormalities and refractive errors in police and guide dogs in Brazil. Methods: A total of 71 dogs (141 eyes) were evaluated. Ten were guide dogs and 61 were police dogs. The work performance was assessed by a questionnaire to each dog’s handler/owner. All the dogs underwent a complete ocular examination, and abnormalities were classified by condition, if they were active or inactive and if they were located within the visual axis. In addition, 62 dogs were evaluated by streak retinoscopy for refractive errors. Results: Ophthalmic abnormalities were detected in 38 (54%) dogs, of which 23 were considered inherited, 25 were considered active, and 10 were located within the visual axis. Incipient cataracts were the most prevalent abnormality. No guide dog had an abnormality within the visual axis. The most common refractive error was myopia with the median and interquartile range of −0.75 ± 0.75 diopters; among these, police dogs had −1.0 ± 0.5 diopters, whereas guide dogs +0.38 ± 0.75 diopters. Police dogs tended to be slightly myopic and guide dogs were emmetropic. Conclusion: Despite finding a considerable number of ophthalmic abnormalities and refractive error, work performance was good with no signs of visual impairment in any dog. Regular ophthalmic examinations are advised for working dogs, and an exclusion of severely affected dogs from breeding programs is recommended.
... Although the mode of inheritance remains unclear in most, several breeds are known to develop early-onset cataracts that are assumed to be inherited [16,17]. These breeds include, but are not limited to the following [16][17][18][19][20][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40]: ...
Chapter
The lens contributes two‐thirds of the refractive power of the eye. As such, it plays an important role in vision. Although less so in companion animals than in humans, the lens also contributes to accommodation, so that both near and far objects come into focus. For the lens to function as a refractive surface, it must maintain transparency. Transparency may be impacted by age‐related denseness of the lens nucleus. This so‐called nuclear sclerosis creates haziness within the lens. Although this haziness does not typically impact vision, it is easily observed by the astute observer. Nuclear sclerosis may be confused for a cataract. A cataract is an opacity within the lens or lens capsule. This opacity may or may not progress over time. When cataracts progress, they typically move through a series of stages of development, from incipient to immature, and mature to hypermature. Immature cataracts are best addressed via phacoemulsification and artificial lens implantation. As cataracts progress, perioperative and postsurgical complications increase, and vision may less likely be restored. Expedited referral to board‐certified veterinary ophthalmologists and effective client communication are key to positive patient outcomes. Note that cataracts, although common, are not the only lens‐associated pathology in companion animals. Lens luxations, both anterior and posterior, may also occur. Cats with histories of ocular trauma are more likely to develop intraocular sarcomas. This emphasizes the importance of being thorough on evaluation of the globe during physical examination so as not to miss subtle changes that could have drastic implications for the patient.
... In North America, a prevalence of 2.10% was found in the longhaired Dachshund in a long-term study about primary cataracts . Cataracts in adult dogs have been shown to be hereditary in several dog breeds: the Entlebucher Mountain Dog (Spiess, 1994;, Norwegian Buhund (Bjerkas and Haaland, 1995), Golden and Labrador Retriever (Curtis and Barnett, 1989;Rubin and Flowers, 1974), German Shepherd (Barnett, 1986), West Highland White Terrier , American Cocker Spaniel (Yakely, 1978), English Cocker Spaniel ...
Article
Primary cataracts are breed-related eye diseases and are common in many dog breeds. In this study, 17 genes (BFSP2, EYA1, FOXE3, FTL, GCNT2, GJA3, GJA8, HSF4, MAF, MIP, PAX6, PITX3, SIX5, SORD, SOX1, SPARC, TRNT1) were evaluated as candidates for primary non-congenital cataracts (CAT) in the Dachshund using microsatellites adjacent to the candidate genes. Linkage and association with CAT was tested in 15 affected and six unaffected wire-haired Dachshunds. Non-parametric linkage analysis and association tests did not reveal significant linkage or association for the candidate gene flanking microsatellites tested. Thus, it is unlikely that the 17 investigated candidate genes harbour a causative mutation for CAT in these Dachshunds.
... Cataracts frequently cause visual impairment and are a major cause of blindness in dogs [1-6]. Inheritance of noncongenital cataracts has been demonstrated in several dog breeds, e.g., the golden and labrador retrievers [7,8], German shepherd [9], West Highland white terrier [10], American cocker spaniel [11], Tibetan terrier [12], Afghan hound [13], standard poodle [14,15], and the Entlebucher mountain dog [16]. As the dachshund is a breed predisposed to primary noncongenital cataract (CAT), it is assumed that these cataracts are also hereditary [2,4]. ...
Article
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We analyzed the gamma-crystallin genes CRYGB, CRYGC, and CRYGS in the dog and tested single nucleotide polymorphisms (SNPs) for linkage and association with primary noncongenital cataract (CAT) in the dachshund, a popular dog breed. The crystallin genes may be involved in the pathogenesis of canine CAT as shown in humans and mice. We sequenced all exons and their flanking intronic regions of the CRYGB, CRYGC, and CRYGS genes and in addition, the complete cDNA of these three genes using lens tissue from CAT-affected and unaffected dogs of several breeds. After examining BLASTN analyses, we compared the gene structure with the predicted genes in the current dog genome assembly and the orthologs of humans and mice. The search for SNPs within these crystallin genes revealed a total of five polymorphisms. As both CAT-affected and unaffected dogs shared identical haplotypes, there was no cosegregation of the SNP alleles with the affected animals. Expression did not differ among CAT-affected and unaffected dogs. The polymorphisms reported for CRYGB, CRYGC, and CRYGS can be excluded as causative mutations for the CAT phenotype in the wire- and smooth-haired dachshund. The canine cataract gene orthologs described here may serve as a valuable resource for further studies in other dog breeds to develop a canine model. Many different dog breeds are affected by CAT. The use of the SNPs presented in this paper can facilitate the screening of more dog breeds.
... In North America, a prevalence of 2.10% was found in the longhaired Dachshund in a long-term study about primary cataracts (). Cataracts in adult dogs have been shown to be hereditary in several dog breeds: the Entlebucher Mountain Dog (Spiess, 1994;), Norwegian Buhund (Bjerkas and Haaland, 1995), Golden and Labrador Retriever (Curtis and Barnett, 1989; Rubin and Flowers, 1974), German Shepherd (Barnett, 1986), West Highland White Terrier (), American Cocker Spaniel (Yakely, 1978), English Cocker Spaniel (Engelhardt et al., 2007), Tibetan Terrier (Ketteritzsch et al., 2004), Afghan Hound (Roberts and Helper, 1972), and Standard Poodle (Rubin and Flowers, 1972; Barnett and Startup, 1985) . 2003). ...
Article
Testing of the cataract-causing insertion/deletion mutation in the canine HSF4 gene for its linkage and association with primary cataracts (CAT) in Dachshunds and Entlebucher Mountain dogs. Exon 9 with flanking intronic regions of the canine HSF4 gene was sequenced in 24 Dachshunds and 20 Entlebucher Mountain dogs. The HSF4 cDNA sequence of lens tissue was analyzed in a CAT-unaffected mixed-breed dog and in three CAT-affected dogs of different breeds, including a Wire-haired Dachshund, a Dachshund-mix and a German Shepherd dog. In all dogs investigated here, the previously reported CAT-causing mutation did not exist. We found a single nucleotide polymorphism (SNP) in intron 9, which was neither associated nor linked with the CAT phenotype in the two dog breeds. The CAT phenotype in the two dog breeds investigated here was not caused by the same mutation found to be associated with early-onset CAT in the Staffordshire Bull Terrier and Boston Terrier. The intronic SNP may be useful to test HSF4 for linkage with CAT in further dog breeds.
Article
Objective The objective of this study was to describe the prevalences of primary noncongenital cataracts (CAT) and persistent hyperplastic tunica vasculosa lentis (PHTVL) in the German Pinscher population in Germany and to analyze the mode of inheritance of CAT in this dog breed.Animals studiedAll German Pinschers with a certified veterinary ophthalmological diagnosis and born between 1993 and 2010 were included in this study. Examinations were performed between 1997 and 2013 by certified veterinary ophthalmologists of the German panel of the European Eye Scheme for Diagnosis of Inherited Eye Diseases in Animals (DOK).ProceduresData were reviewed retrospectively for the prevalence of PHTVL, and the prevalence, location and age at diagnosis of CAT. Inheritance of CAT was analyzed using the Singles Method.ResultsA total of 779 eye examination reports of 409 dogs were available. Primary noncongenital cataracts were diagnosed in 64 (15.6%), and PHTVL in 13 (3.2%) of the examined dogs. The pedigrees included 168 ophthalmologically examined dogs with 104 CAT-unaffected and 64 CAT-affected dogs. All affected animals were offspring of a frequently used stud-dog or closely related ancestors of this stud-dog. Simple segregation analysis revealed a recessive mode of inheritance for CAT.Conclusions An early onset form of CAT with various cortical, posterior polar or multiple locations was the most prevalent manifestation among close relatives in German Pinschers. The pedigree analysis indicated a hereditary component of cataract formation with a monogenic autosomal recessive pattern of inheritance.
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This paper describes the more common inherited eye conditions in the dog and cat, paying particular attention to the newer conditions, not all of which have previously been reported in the literature. These newer conditions include entropion in the shar pei, microphthalmos in the dobermann and miniature schnauzer, cataract in the German shepherd dog and Norwegian buhund, progressive retinal atrophy in the Tibetan terrier, Tibetan spaniel, miniature longhaired dachshund and two forms in the Abyssinian cat, multifocal retinal dysplasia in the English springer spaniel and other breeds, persistent hyperplastic primary vitreous in the Staffordshire bull terrier and dobermann and optic nerve hypoplasia in the toy poodle. Anatomical classification presents a convenient means of describing these conditions which may affect the whole globe, the eyelids, the nictitating membrane, the nasolacrimal duct system, the conjunctiva, the cornea, the aqueous, the iris, the lens and zonule, the vitreous, the retina, the choroid and sclera and the optic nerve.
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Cataract is a common eye condition in the dog, classified in several ways and with a varied aetiology. The clinical appearance of hereditary cataract is described in the Boston Terrier, Miniature Schnauzer, Staffordshire Bull Terrier, Cavalier King Charles Spaniel, Golden Retriever, Labrador Retriever, Large Munsterlander, English Cocker Spaniel, American Cocker Spaniel, Afghan Hound, Welsh Springer Spaniel, German Shepherd Dog, Standard Poodle. Cataracts secondary to other eye diseases, both hereditary and non-hereditary, and to systemic conditions are also discussed, as well as the differential diagnosis of cataract.
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The aims of this study were to analyze the influence of systematic environmental effects on the prevalence of primary non-congenital cataract (CAT), fibreglass cataract in the nucleus (FCN), and prominent suture lines (PSL) and to estimate the heritabilities of these eye diseases in the wild-boar-colored wirehaired Dachshunds (WWD) bred in the German Dachshund Club 1888 e.V. (DTK). Data included 2,430 WWD born between 1995 and 2003 that were examined between 1996 and 2005 by veterinary ophthalmologists. CAT was diagnosed in 3.83% of the 2,430 dogs, FCN in 3.74%, and PSL in 2.76%. Sex, size, inbreeding coefficient, the age of the dog at examination, experience of the veterinary ophthalmologist and the additive genetic effect of the animal were considered in the multivariate linear model. The age of the dog at examination had a significant influence on the prevalence of FCN. The degree of experience of the veterinary ophthalmologist significantly influenced the prevalence of FCN and PSL. Using a transformation into the Dempster-Lerner threshold model, heritability estimates (h(DL)2) for WWD were h(DL)2 = 0.39 +/- 0.13 for CAT, h(DL)2 = 0.36 +/- 0.11 for FCN and h(DL)2 = 0.49 +/- 0.12 for PSL. Positive genetic correlations (r(g)) were found between CAT and FCN (r(g) = 0.58 +/- 0.21), between PSL and FCN (r(g) = 0.83 +/- 0.23), and between CAT and PSL (r(g) = 0.79 +/- 0.06). The eye diseases investigated here in the Dachshund were found to be genetically influenced and positively correlated traits.
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Congenital and hereditary cataract associated with microphthalmos is recorded and described in the Miniature Schnauzer in the United Kingdom. The cataract is present at birth, bilateral, essentially nuclear and usually not progressive. It is due to a simple, autosomal, recessive gene.
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Cataract is a common eye condition in the dog, classified in several ways and with a varied aetiology. The clinical appearance of hereditary cataract is described in the Boston Terrier, Miniature Schnauzer, Staffordshire Bull Terrier, Cavalier King Charles Spaniel, Golden Retriever, Labrador Retriever, Large Munsterlander, English Cocker Spaniel, American Cocker Spaniel, Afghan Hound, Welsh Springer Spaniel, German Shepherd Dog, Standard Poodle. Cataracts secondary to other eye diseases, both hereditary and non-hereditary, and to systemic conditions are also discussed, as well as the differential diagnosis of cataract.
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Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).