Genetic testing and counseling are advisable in family members of patients with choroideremia, particularly female members of childbearing age, according to a poster presented at the virtual Euretina congress.
“Since the symptoms are very similar to those of retinitis pigmentosa, choroideremia should be considered in the differential diagnosis of males with RP-like symptoms and deafness,” Lucia Lee Ferraro, MD, said in the poster presentation.
Choroideremia is a genetic eye disorder caused by a mutation of the CHM gene, characterized by progressive degeneration of the retina and