Descriptive analysis of pattern of age related macular degeneration (AMD) lesions in multiplex families.

Abstract

Abstract: : Purpose: To study the pattern of distribution of various lesions of age related macular degeneration (AMD) in affected members of familial AMD. Methods: Data on 107 families with AMD were reviewed and the macular findings were graded according to the Wisconsin grading system. Each family was studied for the type, severity and distribution of the various lesions of AMD. The grades in the probands were compared to the grades in the other affected family members. The grade of the more severely affected eye was considered in grouping the patients Results: 107 probands and 200 other family members for a total of 307 individuals were examined. Only thirty one of the examined family members were unaffected (Grade 1) and thus were excluded from the analysis of disease severity leaving 169 affected siblings. Proband Other Affected Family Members 

The probands tended to have more severe disease than their siblings as 63% of the probands and 34% of the siblings had grade 5 AMD, 17% of the probands and 4% of the siblings had geographic atrophy, and 18% of the probands and 12% of the siblings had grade 3 AMD. There was a strong correlation of severity within families, with 53% of the sibs of grade 5 probands with grade 5 and 22% with grade 3, while only 24% of sibs of grade 3 probands were grade 5 and 55% were grade 3. Conclusions: Patients with neovascular AMD presented as probands more commonly than patients with geographic atrophy or lower grades of AMD. The grade of AMD in siblings and probands are strongly correlated. This familial pattern may reflect some level of genetic control of severity in AMD.

Keywords: age–related macular degeneration • retina • clinical (human) or epidemiologic studies: prevalence/incidence