Punctate retinal hemorrhage and its relation to ocular and systemic disease in dogs: 83 cases

Violette, Nathaniel P.; Ledbetter, Eric C.

doi:10.1111/vop.12496

Cited by 16 publications

(9 citation statements)

References 28 publications

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“…Eye diseases in dogs may be caused by different pathogeneses, including neoplasia, trauma, infectious diseases, and genetics [6,7,8,9]. Furthermore, eye changes may occur secondary to systemic diseases such as diabetes mellitus [10] or hypothyroidism [11]. Congenital eye malformations might be caused by a genetic disposition, as well as by exposure to toxins [12] or infections of the mother during pregnancy [13].…”

Section: Introductionmentioning

confidence: 99%

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

Hug

Anderegg

Dürig

et al. 2019

Genes

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Causative genetic variants for more than 30 heritable eye disorders in dogs have been reported. For other clinically described eye disorders, the genetic cause is still unclear. We investigated four Golden Retriever litters segregating for highly variable congenital eye malformations. Several affected puppies had unilateral or bilateral retina dysplasia and/or optic nerve hypoplasia. The four litters shared the same father or grandfather suggesting a heritable condition with an autosomal dominant mode of inheritance. The genome of one affected dog was sequenced and compared to 601 control genomes. A heterozygous private nonsense variant, c.487C>T, was found in the SIX6 gene. This variant is predicted to truncate about a third of the open reading frame, p.(Gln163*). We genotyped all available family members and 464 unrelated Golden Retrievers. All three available cases were heterozygous. Five additional close relatives including the common sire were also heterozygous, but did not show any obvious eye phenotypes. The variant was absent from the 464 unrelated Golden Retrievers and 17 non-affected siblings of the cases. The SIX6 protein is a homeobox transcription factor with a known role in eye development. In humans and other species, SIX6 loss of function variants were reported to cause congenital eye malformations. This strongly suggests that the c.487C>T variant detected contributed to the observed eye malformations. We hypothesize that the residual amount of functional SIX6 protein likely to be expressed in heterozygous dogs is sufficient to explain the observed incomplete penetrance and the varying severity of the eye defects in the affected dogs.

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Section: Introductionmentioning

confidence: 99%

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

Hug

Anderegg

Dürig

et al. 2019

Genes

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“… 14 Dogs with neoplasia frequently have hemostatic conditions including thrombocytopenia and hypercoaguability. 14 Direct infiltration of leukemic cells can manifest as retinal hemorrhage and may also be represented by gray‐white nodules, perivascular sheathing and rarely swelling of the optic nerve. 13 , 15 …”

Section: Discussionmentioning

confidence: 99%

“…Neoplasia has been implicated in disrupting normal hemostatic mechanisms that can increase the risk for retinal hemorrhage according to one report 14 . Dogs with neoplasia frequently have hemostatic conditions including thrombocytopenia and hypercoaguability 14 . Direct infiltration of leukemic cells can manifest as retinal hemorrhage and may also be represented by gray‐white nodules, perivascular sheathing and rarely swelling of the optic nerve 13,15 …”

Section: Discussionmentioning

confidence: 99%

Hyphema and secondary glaucoma as a presenting complaint in a dog with chronic lymphocytic leukemia

Dehghanpir

Sheridan

Evans

et al. 2022

Clinical Case Reports

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A 5‐year‐old Pomeranian was diagnosed with anterior uveitis, hyphema, and secondary glaucoma OD. Concurrent retinal hemorrhage, perivascular sheathing, and papilledema were identified OS. Work‐up identified small cell lymphocytosis (>900 × 10 9 /L), anemia, and thrombocytopenia. The patient was diagnosed with B‐cell chronic lymphocytic leukemia as a cause of the ocular findings.

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“…Subretinal haemorrhage can lead to retinal detachments [43]. An analysis of 83 dogs diagnosed with punctate retinal haemorrhage revealed a mean age of the patients of 10 years ± 3.8 [55]. A study performed on 42 hypertensive dogs revealed that 40 % of them had retinal haemorrhages [28].…”

Section: Hypertensive Chorioretinopathymentioning

confidence: 99%

Retinal Diseases of Senior Dogs

2020

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Aging consists of a physiological decline of an organism’s functional activity. During the aging process, the structural and functional changes of the retina can be observed. In most cases, progressive vision loss occurs due to the age related changes of the anterior segment. Retinal diseases, characteristic for senior dogs are: retinal detachment, hypertensive chorioretinopathy, sudden acquired retinal degeneration syndrome (SARDS), progressive retinal atrophy (PRA), glaucoma, retinopathy, cystoid degeneration and neoplasms. The examination of the retina in senior dogs is based on: ophthalmoscopic examination, electroretinography, spectral-domain optical coherence tomography (AD-OCT) and if necessary, histopathological examinations. Comprehensive knowledge regarding the senior dog’s health, significantly increases their quality of life.

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Punctate retinal hemorrhage and its relation to ocular and systemic disease in dogs: 83 cases

Abstract: The risk of PRH in dogs may be increased by certain ocular and systemic diseases. As the presence of PRH can be associated with underlying systemic disease in dogs, it may prompt further clinical investigation and diagnostics.

Cited by 16 publications

References 28 publications

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

Hyphema and secondary glaucoma as a presenting complaint in a dog with chronic lymphocytic leukemia

Retinal Diseases of Senior Dogs

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