Retinal dystrophies are genetically determined diseases, implying the loss of function of the retina with a wide phenotypic and genotypic variability. There are very few phenotypic, genotypic and epidemiological data ...Retinal dystrophies are genetically determined diseases, implying the loss of function of the retina with a wide phenotypic and genotypic variability. There are very few phenotypic, genotypic and epidemiological data on retinal dystrophies in Latin America. The Objective of this study is to describe the epidemioiogical and clinical characteristics of hereditary retinal and choroidal diseases, in retina practices in Panama. A descriptive study, from 2012 to 2013, was performed in the main retina practices in Panama. All detected patients were given a free appointment to gather their phenotypic characteristics and pedigrees. An incidence of five new cases per year, and an accumulated incidence of 5.35 patients per I0,000 was calculated for the public hospitals. A frequency of 2.7 cases per 1,000 patients was observed in the main retina practices, where 69% had rod-cone dystrophies, 14.3% cone-rod dystrophies, 7.1% Stargardt disease, 4.8% Stargardt-like macular dystrophy and two patients presented other dystrophies. Blindness was the main family antecedent （45.2%）. Retinal pigment was present in 59% and strabismus in 21.4% of the patients. Rod-cone and cone-rod dystrophies had similar geographic distribution and the autosomal recessive inheritance pattern was the most frequently observed. This study gives the first phenotypic data of retinal dystrophies in Panama to orient clinicians for a better diagnosis and phenotyping-genotyping correlation for retinal dystrophies in Central America.展开更多
文摘Retinal dystrophies are genetically determined diseases, implying the loss of function of the retina with a wide phenotypic and genotypic variability. There are very few phenotypic, genotypic and epidemiological data on retinal dystrophies in Latin America. The Objective of this study is to describe the epidemioiogical and clinical characteristics of hereditary retinal and choroidal diseases, in retina practices in Panama. A descriptive study, from 2012 to 2013, was performed in the main retina practices in Panama. All detected patients were given a free appointment to gather their phenotypic characteristics and pedigrees. An incidence of five new cases per year, and an accumulated incidence of 5.35 patients per I0,000 was calculated for the public hospitals. A frequency of 2.7 cases per 1,000 patients was observed in the main retina practices, where 69% had rod-cone dystrophies, 14.3% cone-rod dystrophies, 7.1% Stargardt disease, 4.8% Stargardt-like macular dystrophy and two patients presented other dystrophies. Blindness was the main family antecedent （45.2%）. Retinal pigment was present in 59% and strabismus in 21.4% of the patients. Rod-cone and cone-rod dystrophies had similar geographic distribution and the autosomal recessive inheritance pattern was the most frequently observed. This study gives the first phenotypic data of retinal dystrophies in Panama to orient clinicians for a better diagnosis and phenotyping-genotyping correlation for retinal dystrophies in Central America.
