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Cone Rode Dystrophy 1 (CRD1)
| Acronym: | CRD1 |
| Gene: | PDE6B |
| Mutation: | c.2404-2406del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Cone Rode Dystrophy 1 (CRD1) is a genetic eye disorder affecting the American Staffordshire Terriers. CRD1 is a part of a wider group of disorders, hereditary retinal degenerations or progressive retinal atrophies, whose various forms are known to affect numerous different dog breeds. In general, these diseases are characterized by the disturbance of dark vision, visual field defects, and abnormalities in the electroretinogram, which can progress to blindness. It appears in both eyes simultaneously. The age of onset and rate of retinal degeneration varies between the different forms of the conditions. Some forms of PRA are common to multiple dog breeds, while others are recognized in just a single breed. PRA appears in most dog breeds, but also in mixed breed dogs. CRD1 shares the same symptoms as CRD2 appearing in American Pitbull Terriers, but it is caused by a different mutation.
The symptoms start to develop already at an early age. At 11 weeks of age, the outer nuclear layer was 6 to 8 nuclei thick, in comparison to 12 to 15 nuclei of thickness in a healthy dog. Photoreceptors of the inner segment and outer segment were distinctly distorted, and inner segment rods were more severely affected than cones. When the puppy was 20 months old, the retina was in an advanced state of degeneration, with less than 2 or 3 outer nuclear layer cells. Before 1 year of age, visual impairment in the affected dog can be noticed, which progresses into severe blindness in early adulthood.
Cone Rode Dystrophy 1 is caused by a mutation in the PDE6B gene. The PDR6B gene is known to have great importance in process of phototransduction. CRD1 is inherited in an autosomal recessive pattern. A dog can be clear, carrier (heterozygote), or affected (homozygote). Heterozygotes have no symptoms. At conception, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Since CRD1 is caused by a different mutation than CRD2, mating a CRD1 carrier with a CRD2 carried does not produce affected offspring.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Goldstein O, Mezey JG, Schweitzer PA, et al. IQCB1 and PDE6B mutations cause similar early onset retinal degeneration in two closely related Terrier dog breeds. Invest Ophthalmol Vis Sci. 2013;54:7005–7019. DOI:10.1167/ iovs.13-12915