OMIM ID:
Retinal Detachment with Lattice Degeneration
Alternate Names
Defective Genes
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
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission