Autosomal dominant peripheral cystic retinal patches and non-cystic retinal tufts associated with peripapillary crescents, retinal breaks and uveitis.

Abstract

To characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis and assess whether these findings were associated with altered homocysteine metabolism. Family members were followed prospectively and regularly examined. Molecular genetic analysis was performed on family members to detect cystathionine beta-synthase (CBS) 307G-S and 5,10-methylenetetrahydrofolate (MTHFR) 677C-T mutations. Over 11 years, 25 family members in four generations were examined, none of whom had significant refractive errors. Fifteen affected individuals had peripheral cystic retinal patches and in some cases non-cystic retinal tufts, associated with peripapillary pigmentation. Mean age at first examination of affected and non-affected individuals was the same. During follow-up the fundal findings remained unchanged in the affected group and no clinical characteristics developed in the unaffected individuals. Two affected siblings had associated uveitis and rhegmatogenous retinal detachment, which were successfully treated, while a third affected individual had a pigmented retinal break not requiring treatment. Heterozygosity for the CBS 307G-S mutation did not segregate with affected individuals while the MTHFR 677C-T mutation was not detected. This family has previously undescribed fundal findings inherited in an apparent autosomal dominant pattern associated with retinal breaks and uveitis. There is no associated inherited alteration of homocysteine metabolism.