OMIA:001223-9615 : Goniodysgenesis in Canis lupus familiaris
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Cross-species summary: Also known as Goniodysplasia, mesodermal and Mesodermal dysgenesis
Species-specific description: Genetics Committee of the American College of Veterinary Opthalmologists (2021): "congenital anomaly characterized by the persistence of a variably fenestrated sheet of uveal tissue spanning the iridocorneal angle, extending from the iris base to the peripheral cornea. Diagnosis is by gonioscopy, which is not part of a routine eye certification examination."
Inheritance: Pugh et al. (2019): "Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed."
Mapping: A GWAS on 17 cases and 42 controls enabled Pugh et al. (2019) to map this disorder in Border Collies to a 3.8Mb region between 49,879,074 and 53,632,785 on chromosome CFA17.
Markers: Pugh et al. (2019) noted that although the association of the c.590G>A variant with goniodysgenesis in Border Collies is strong, it is not complete. Oliver et al. (2019) confirmed the incompleteness of this association in Border Collies: "Of the 90 [non-affected] controls, 71 were homozygous for the wild-type allele, two were homozygous for the [c.590G>A] variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous." In other words, the chance of this marker identifying Border Collies that are actually going to be affected is only 69% (11/16).
Molecular basis: Pugh et al. (2019) reported that analysis of "Whole genome sequences [in the candidate region] of three dogs with glaucoma, three severely affected by goniodysgenesis and three unaffected dogs identified a missense variant [c.590G>A] in the olfactomedin like 3 (OLFML3) gene in all six affected animals."
Breeds: Border Collie, Siberian Husky.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|OLFML3||olfactomedin-like 3||Canis lupus familiaris||17||NC_051821.1 (52663276..52666350)||OLFML3||Homologene, Ensembl , NCBI gene|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Genetics Committee of the American College of Veterinary Opthalmologists :|
|The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf :, 2021.|
|2019||Oliver, J.A.C., Wright, H., Massidda, P.A., Burmeister, L.M., Mellersh, C.S., Oliver, J.A.C., Wright, H., Massidda, P.A., Burmeister, L.M., Mellersh, C.S. :|
|A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol :, 2019. Pubmed reference: 31141290 . DOI: 10.1111/vop.12680.|
|Pugh, C.A., Farrell, L.L., Carlisle, A.J., Bush, S.J., Ewing, A., Trejo-Reveles, V., Matika, O., de Kloet, A., Walsh, C., Bishop, S.C., Prendergast, J.G.D., Rainger, J., Schoenebeck, J.J., Summers, K.M. :|
|Arginine to glutamine variant in olfactomedin like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed. G3 (Bethesda) :, 2019. Pubmed reference: 30696701 . DOI: 10.1534/g3.118.200944.|
|2017||Oliver, J.A., Ekiri, A.B., Mellersh, C.S. :|
|Pectinate ligament dysplasia in the Border Collie, Hungarian Vizsla and Golden Retriever. Vet Rec 180:279, 2017. Pubmed reference: 27999154 . DOI: 10.1136/vr.104121.|
|2016||Fricker, G.V., Smith, K., Gould, D.J. :|
|Survey of the incidence of pectinate ligament dysplasia and glaucoma in the UK Leonberger population. Vet Ophthalmol 19:379-85, 2016. Pubmed reference: 26359130 . DOI: 10.1111/vop.12311.|
|Oliver, J.A., Ekiri, A., Mellersh, C.S. :|
|Prevalence of pectinate ligament dysplasia and associations with age, sex and intraocular pressure in the Basset hound, Flatcoated retriever and Dandie Dinmont terrier. Canine Genet Epidemiol 3:1, 2016. Pubmed reference: 26973793 . DOI: 10.1186/s40575-016-0033-1.|
|2015||Pearl, R., Gould, D., Spiess, B., Pearl, R., Gould, D., Spiess, B. :|
|Progression of pectinate ligament dysplasia over time in two populations of Flat-Coated Retrievers. Vet Ophthalmol 18:6-12, 2015. Pubmed reference: 24025050 . DOI: 10.1111/vop.12098.|
|1998||Wood, J.L., Lakhani, K.H., Read, R.A. :|
|Pectinate ligament dysplasia and glaucoma in Flat Coated Retrievers. II. Assessment of prevalence and heritability. Vet Ophthalmol 1:91-99, 1998. Pubmed reference: 11397216 .|
|1996||Kellner, S.J. :|
|Mesodermal goniodysplasia in the Siberian Husky [German] Kleintierpraxis 41:19 ff., 1996.|
|Ruhli, M.B., Spiess, B.M. :|
|Goniodysgenesis in the bouvier des flandres dog [German] Schweizer Archiv fur Tierheilkunde 138:307-311, 1996. Pubmed reference: 8765546 .|
|1991||Ekesten, B., Narfström, K. :|
|Correlation of morphologic features of the iridocorneal angle to intraocular pressure in Samoyeds. Am J Vet Res 52:1875-8, 1991. Pubmed reference: 1785731 .|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 01 Feb 2019
- Changed by Frank Nicholas on 01 Jun 2019
- Changed by Frank Nicholas on 03 Jun 2019
- Changed by Imke Tammen2 on 17 Jun 2023