Early interventions necessary in autosomal-dominant optic atrophy, researchers find

In a study to assess optical coherence tomography as a method to diagnose and phenotype autosomal-dominant optic atrophy, researchers found the imaging to be sensitive and effective.

Ronnback and colleagues also discovered that in patients with OPA1 exon 28 (2826delT) autosomal-dominant optic atrophy (ADOA), the defect was fully developed by early childhood.

Researchers reported in Ophthalmology that they studied 49 patients with OPA1 exon 28 (2826delT) ADOA and 51 patients who were first-degree relatives and mutation-free. All participants underwent routine examinations and optical coherence tomography (OCT) with segmentation of the perifoveal retinal ganglion cell-inner plexiform layer and the peripapillary retinal nerve fiber layer, according to the study.

Results showed that OCT was receptive to diagnosing ADOA and that the associated OPA1 exon 28 (2826delT) defect finished progressing sometime in early childhood or the perinatal period.

"Our findings have profound implications for the perspective of developing interventions to limit visual dysfunction in ADOA," the authors concluded. "Given that, in patients with the 2826delT OPA1 mutation structure and function seem to have reached a fixed level before the age of 8 years, specific therapy or prevention will have to be applied in early childhood, or perhaps even during fetal life.

“This makes it difficult to implement specific interventions, except in ADOA families where new cases are expected,” they continued. “This should not discourage the search for general principles of promoting fetal and child health that could lead to the preservation of a larger ganglion cell reserve in people with ADOA."

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Source:

Ophthalmology. 2013;doi: 10.1016/j.ophtha.2013.08.008.