INTEC graduate research reports imaging modality reduces cost in the diagnosis of choroideremia
SANTO DOMINGO. -The imaging modalities allow to establish a early and accurate diagnosis of choroideremia (CHM), a hereditary eye disease, what rEduce the cost of testing genetics without detracting from them, whenever possible.
This is what the research explains "Characteristics of choroideremia in different imaging modalities”, Of the authorship of Heinelly Ogando Adames, graduated from Medicine of the Instituto Tecnológico de Santo Domingo (INTEC), who highlights that the choroideremia is a complex and rare disease It is frequently diagnosed due to its appearance similar to classic retinitis pigmentosa.
"It is an X-linked recessive retinal disease that causes progressive degeneration of the retina, retinal pigment epithelium and choroid," says the research reported in the Acta Scientific Ophthalmology editorial group.
According to the research, CHM is caused by mutations in its X-linked gene that encodes the REP-1 protein (Rab escort protein 1) and the Ras-linked GTPase. “REP-1 is essential in post-translational activation and in subcellular localization of GTP Rab binding proteins, which control vesicle trafficking in secretory and endocytic pathways. The mutations in CHM lead to a deterioration in the association of Rab proteins with the donor membranes, which leads to cell death ”.
However, the research points out that the identification of the characteristic findings of choroideremia in imaging modalities allows an accurate diagnosis, abolishing the cost of genetic tests.
"His management includes periodic ophthalmological examinations to monitor the progression of CHM or the appearance of cataracts and the use of sunglasses that block UV radiation and genetic therapy," Ogando explains in his research.
La INTEC graduate refers that the prevalence of choroideremia is estimated in approximately 50,000 in people of European descent and impaired visual acuity manifests in mid-adulthood, presenting nictalopia and tubular vision.
For the diagnosis of choroideremia, research suggests considering suspicious signs or symptoms: nictalopia and concentric reduction of CV or tubular vision, depigmentation and progressive atrophy of RPE and choriocapillaris with visualization of the large choroidal vessels, X-linked recessive inheritance, ERG decreased or abolished, decreased choroid thickness measured with OCT.
The complete investigation can be consulted at the following link: https://actascientific.com/ASOP/ASOP-03-0093.php