Retinal Detachment with Lattice Degeneration

Clinical Characteristics
Ocular Features: 

Lattice degeneration of the retina is well known to increase the risk of retinal detachment.  Lattice is found in 40% of all rhegmatogenous retinal detachments but is present in only 7-10% of eye bank eyes.  Lattice degeneration by itself can lead to retinal detachment in less than 1% of patients but the risk increases into the 50% range when myopia is also present. 

A four generation pedigree of 88 individuals has been reported in which 22% had lattice without myopia and 6% developed retinal detachments.  The atrophic changes were progressive since among those of the most recent generation, 9.5% had lattice at an average of 11 years whereas 75% in earlier generations had such changes at an average age of 56 years.

Systemic Features: 

No systemic abnormalities have been reported in this disorder.

Genetics

The reported pedigree showed a clear autosomal dominant pattern with male-to-male transmission.

Rhegmatogenous retinal detachments without lattice have also been reported in autosomal dominant patterns but at least some are due to mutations in COL2A1.

Treatment
Treatment Options: 

Repair of the retinal detachment is indicated. No information regarding the benefits of prophylactic treatment is available. It may be prudent to counsel patients with this mutation to avoid contact sports and blunt trauma.

References
Article Title: 

References

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8.

PubMedID: 15671297

McNiel, N. A., McPherson, A. The inheritance of detached retina in a Texas family. J. Hered. 62: 73-76, 1971.

Everett WG. Study of a family with lattice degeneration and retinal detachment. Am J Ophthalmol. 1968 Feb;65(2):229-32.

PubMedID: 5636024