LOC387715 associated with exudative activity of polypoidal lesions

[MyVisionTest]

The LOC387715 A69S genotype is associated with the degree of exudative
activity in patients with polypoidal choroidal vasculopathy (PCV),
according to a new study.

PCV is a distinct clinical entity that is characterized by polypoidal
vasculature with interconnecting choroidal vessels. It has been
proposed that PCV may be a variant of neovascular AMD. AMD and PCV may
coexist in the same eye. Because the PCV vascular lesions progress
beneath the retinal pigment epithelium (RPE), to diagnose PCV
successfully, use of indocyanine green angiography (ICGA) is critical.


The LOC387715/ARMS2 gene codes for a mitochondrial protein, and has
been associated with increased risk for advanced AMD. This suggests
intriguing mechanisms through which A69S change may influence AMD
susceptibility. Mitochondria are implicated in the pathogenesis of
age-related neurodegenerative diseases, including Alzheimer's disease,
Parkinson's disease, and amyotrophic lateral sclerosis. Mitochondrial
dysfunction associated with aging can result in impairment of energy
metabolism and homeostasis, generation of reactive oxygen species,
accumulation of somatic mutations in mitochondrial DNA, and activation
of the apoptotic pathway. It has been proposed that the altered
function of the putative mitochondrial protein LOC387715/ARMS2 by A69S
substitution enhances the susceptibility to aging-associated
degeneration of macular photoreceptors.

Ninety-two subjects with symptomatic subfoveal polypoidal choroidal
vasculopathy, whose visual acuity was from 0.1 to 0.5 on the Landolt
chart, were genotyped for the LOC387715 polymorphism (rs10490924)
using denaturing high-performance chromatography. The angiographic
phenotype, including lesion composition and size, was evaluated by
evaluators who were masked for the genotype. Lesion size was assessed
by the greatest linear dimension based on fluorescein or indocyanine
green angiography.

Although there was no statistically significant difference in lesion
size on indocyanine green angiography (P = 0.36, Kruskal-Wallis test)
and in lesion composition (P = 0.59, chi-square test) among the 3
genotypes, there was a statistically significant difference in lesion
size on fluorescein angiography (P = 0.0022, Kruskal-Wallis test).

The LOC387715 A69S genotype is not associated with lesion composition
or size on indocyanine green angiography but with lesion size on
fluorescein angiography in patients with subfoveal polypoidal
choroidal vasculopathy. Because fluorescein angiography findings
represent secondary exudative changes, including subretinal
hemorrhages and retinal pigment epithelial detachment, the results in
the present study likely indicate that the T allele at the LOC387715
gene is associated with the exudative activity of polypoidal lesions.

Retina. 2009 Nov-Dec;29(10):1522-6

http://www.ncbi.nlm.nih.gov/pubmed/19898184

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