Optic Nerve Colobomas

Patty Khuly

Summary

The optic nerves––located at the back of the eyes where they establish a direct connection to the brain––are responsible for vision. Should embryologic development not proceed normally, however, bits of the optic nerve may be left out of the process. This creates a “pitted” or “cratered” area within or adjacent to the optic disc (where the optic nerve attaches to the eye). We call this lesion an optic nerve coloboma. If the defect is large enough, normal nerve conduction related to vision can be disrupted and vision impairment ensues.

In dogs, optic nerve colobomas can arise not only from a simple failure in embryologic development (which can be either genetic or environmental in origin and affect one or both eyes), but more commonly as a result of a genetic disease known as Collie Eye Anomaly (CEA). In CEA, optic disc colobomas are but one of several potential problems observed in both eyes of affected dogs.

CEA is inherited as an autosomal recessive trait.

Symptoms and Identification

Optic nerve colobomas, whether inherited as CEA or acquired congenitally via embryologic aberration, are present at birth and do not progress. Affected dogs’ vision will be altered to varying degrees (generally mildly and sometimes not at all). Hence, some puppies will never be diagnosed and will continue to pass down the genetic trait associated with either CEA or embryologic anomaly.

Optic nerve colobomas are diagnosed via fundoscopic examination (observing the back of the eye with a lens). The coloboma typically appears as a misshapen optic disc, usually in the area located at 6 o’clock.

Diagnosis usually occurs either in the course of normal puppy evaluation, because vision impairment is suspected or when the puppy is of a CEA-prone breed. For CEA breeds, genetic testing is now available to determine whether dogs carry the genetic trait that may lead to optic nerve colobomas.

Affected Breeds

Up to 75% of Collies may be affected by CEA. This includes both rough and smooth-coated collies, the Shetland Sheepdog, Australian Shepherd, Lancashire Heeler, and Border Collie. Other dogs may be affected by optic nerve colobomas though more rarely and sporadically. Of these CEA dogs, an estimated 30% will suffer optic disc colobomas.

For the non-CEA associated form of optic nerve coloboma, there appears to be a hereditary predisposition in the Basenji breed.

Treatment

No treatment is available for this condition.

Veterinary Cost

The cost of diagnosis is relatively minor, though opthalmologist consultation is strongly recommended and may increase the cost of diagnosis into the low hundreds of dollars.

Prevention

Preventing optic nerve colobomas is best achieved through CEA testing of all susceptible breeding animals. Affected and carrier individuals should be removed from the breeding pool. Additionally, any dog with a non-CEA related optic nerve coloboma should not be bred.



References

1) Roberts SR: The collie eye anomaly. J Am Vet Med Assoc 1969 Vol 155 (6) pp. 859-864.

2) Latshaw WK, Wyman M, Venske WG: Embryologic development of an anomaly of the ocular fundus in the collie dog. J Am Vet Res, 211-217 ed. 1969 Vol 30 (2).

3) Wyman M, Donovan EF: Eye anomaly of the collie. J Am Vet Med Assoc 1969 Vol 155 (6) pp. 866-870.

4) Bedford PG: Incidence of collie eye anomaly. Vet Rec 1980 Vol 107 (4) pp. 95.

5) Barnett KC: Collie eye anomaly (CEA). J Small Anim Pract 1979 Vol 20 (9) pp. 537-542.

6) Jennifer JK, Kukekova AV, Kirkness EF, et al: Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 2003 Vol 82 (1) pp. 86-95.

7) Donovan RH, Freeman HM, Schepens CL: Anomaly of the collie eye. J Am Vet Med Assoc 1969 Vol 115 (6) pp. 872-877.