Gene testing does inform diagnosis, but it can't tell doctors when to intervene with prophylactic retinal treatments.
by researchers who conducted a study to search for correlations between specific mutations and the severity of the disease.COL2A1. These genes code for collagen components that give structure and strength to connective tissue in joints and various organs.
Comparing the patients with the two variants, the researchers failed to find obvious differences in onset and laterality of retinal detachment or in the incidence of systemic disease.mutation, the researchers found that some variants caused an aberration or reduction of the type 2 collagen alpha-1 chain."Patients with these particular variants tended to have the disease at an earlier stage and a more severe detachment," Recchia said.
He added that"there is no one gene, one effect" in patients with Stickler syndrome. Some families have children who are affected at age 5, while their relatives have nothing at age 40, meaning other genes might be at work.that gene testing has limitations. He explained that genetic testing for Stickler syndrome–associated genes in patients with early-onset retinal detachment may yield variants of uncertain significance in one or more genes.
Retinal Detachment Genetic Disorder Genomics Genomic Medicine Otolaryngology ENT Specialty Head And Neck Surgery ENT Speciality Genetic Testing Genetics Retina Children Child Childhood Pediatrics Kids Glaucoma Hearing Loss Skeleton Tennessee Biologic Therapy Biologics Dysplasia Myopia Nearsightedness Newborn Neonate Eye Precision Medicine Refractive Errors
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