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

Purpose: To characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with reti nal breaks and uveitis and assess whether these findings were associated wi th altered homocysteine metabolism. Methods: Family members were followed p rospectively and regularly examined. Molecular genetic analysis was perform ed on family members to detect cystathionine beta -synthase (CBS) 307G-S an d 5,10-methylenetetrahydrofolate (MTHFR) 677C-T mutations. Results: Over 11 years, 25 family members in four generations were examined, none of whom h ad significant refractive errors. Fifteen affected individuals had peripher al cystic retinal patches and in some cases non-cystic retinal tufts, assoc iated with peripapillary pigmentation. Mean age at first examination of aff ected and non-affected individuals was the same. During follow-up the funda l findings remained unchanged in the affected group and no clinical charact eristics developed in the unaffected individuals. Two affected siblings had associated uveitis and rhegmatogenous retinal detachment, which were succe ssfully treated, while a third affected individual had a pigmented retinal break not requiring treatment. Heterozygosity for the CBS 307G-S mutation d id not segregate with affected individuals while the MTHFR 677C-T mutation was not detected. Conclusions: This family has previously undescribed funda l findings inherited in an apparent autosomal dominant pattern associated w ith retinal breaks and uveitis. There is no associated inherited alteration of homocysteine metabolism.