OMIA:001297-9615 : Early retinal degeneration in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615836 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific name: Progressive retinal atrophy; retinal atrophy -2

Species-specific symbol: erd

Molecular basis: Goldstein et al. (2010): "Fine mapping followed by candidate gene analysis of erd ... established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein ... ."

Clinical features: As photoreceptor differentiation occurs postnatally in dogs (Goldstein et al., 2010), clinical signs will present from around 3-10 weeks of age. Given the affected type of photoreceptors, reduced night vision and night blindness are a common initial clinical presentation (Acland et al., 1987). Affected animals can present with poor generalised vision. Retinal degeneration will occur rapidly in the first 6 months, and then more gradually thereafter (Berta et al., 2011). Complete loss of vision will be reached at around 12-18 months of age (Acland et al., 1987). IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.

Pathology: Postnatal development of the photoreceptors is abnormal, with variations in morphology and function (Acland et al., 1987). Particularly, disparities are seen in the length and alignment of inner and outer segments of adjacent rods (Acland et al., 1987). Photoreceptors in affected dogs will undergo cell division and differentiate into hybrid rod/S-cone photoreceptors. Apoptosis and cell death may also occur (Berta et al., 2011). Rod and cone synapses will fail to develop correctly, eventually leading to retinal degeneration (Goldstein et al., 2010). IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.

Breed: Norwegian Elkhound (Dog) (VBO_0200955).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
STK38L serine/threonine kinase 38 like Canis lupus familiaris 27 NC_051831.1 (20704954..20624441) STK38L Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
700 Norwegian Elkhound (Dog) Early retinal degeneration STK38L insertion, gross (>20) Naturally occurring variant 27 "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" 2010 20887780

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001297-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.
2018 Léger, H., Santana, E., Leu, N.A., Smith, E.T., Beltran, W.A., Aguirre, G.D., Luca, F.C. :
Ndr kinases regulate retinal interneuron proliferation and homeostasis. Sci Rep 8:12544, 2018. Pubmed reference: 30135513. DOI: 10.1038/s41598-018-30492-9.
2016 Palanova, A. :
The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) 7:41-51, 2016. Pubmed reference: 30050836. DOI: 10.2147/VMRR.S63537.
2014 Genini, S., Guziewicz, K.E., Beltran, W.A., Aguirre, G.D. :
Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014. Pubmed reference: 24581223. DOI: 10.1186/1471-2164-15-172.
2013 Genini, S., Beltran, W.A., Aguirre, G.D. :
Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One 8:e85408, 2013. Pubmed reference: 24367709. DOI: 10.1371/journal.pone.0085408.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2011 Berta, Á.I., Boesze-Battaglia, K., Genini, S., Goldstein, O., O'Brien, P.J., Szél, Á., Acland, G.M., Beltran, W.A., Aguirre, G.D. :
Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One 6:e24074, 2011. Pubmed reference: 21980341. DOI: 10.1371/journal.pone.0024074.
2010 Goldstein, O., Kukekova, A.V., Aguirre, G.D., Acland, G.M. :
Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics 96:362-8, 2010. Pubmed reference: 20887780. DOI: 10.1016/j.ygeno.2010.09.003.
2003 Kukekova, A.V., Aguirre, G.D., Acland, G.M. :
Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd) Gene 312:335-43, 2003. Pubmed reference: 12909371.
1999 Acland, G.M., Ray, K., Mellersh, C.S., Langston, A.A., Rine, J., Ostrander, E.A., Aguirre, G.D. :
A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration Genomics 59:134-142, 1999. Pubmed reference: 10409424. DOI: 10.1006/geno.1999.5842.
1996 Ray, K., Acland, G.M., Aguirre, G.D. :
Nonallelism of erd and prcd and exclusion of the canine rds peripherin gene as a candidate for both retinal degeneration loci Investigative Ophthalmology & Visual Science 37:783-794, 1996. Pubmed reference: 8603863.
1995 Moghrabi, W.N., Kedzierski, W., Travis, G.H. :
Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog Experimental Eye Research 61:641-643, 1995. Pubmed reference: 8654508.
1989 Acland, G.M., Fletcher, R.T., Gentleman, S., Chader, G.J., Aguirre, G.D. :
Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989. Pubmed reference: 2558906.
1987 Acland, G.M., Aguirre, G. :
Retinal degenerations in the dog. IV Early retinal degeneration (erd) in Norwegian elkhounds Experimental Eye Research 44:491-521, 1987. Pubmed reference: 3496233.

Edit History


  • Created by Frank Nicholas on 02 Nov 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 02 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Imke Tammen2 on 02 May 2023
  • Changed by Imke Tammen2 on 17 Jun 2023