Familial Exudative Vitreoretinopathy is an autosomal dominant inherited congenital retinal disorder which is thought to be caused by abnormal development of retinal vascular system and characterized by avascularity of peripheral retina, temporally dragged retina and ectopia of macula. Fundus findings of this disorder are very similar to those of retinopathy of prematurity except for no history of prematurity and oxygen administration in perinatal period. So the perinatal history and careful examination of family members in suspicious patients are important in diagnosis. The authors examined a six year old girl with poor vision compatible to a familial exudative vitreoretinopathy and all of her family members. The examination revealed that five members of three generations in this family had familial exudative vitreoretinopathy. The inheritance pattern was an autosomal dominant based upon the pedigree.
Diagnosis ; Family Characteristics* ; Female ; Humans ; Inheritance Patterns ; Oxygen ; Pedigree ; Retina ; Retinaldehyde ; Retinopathy of Prematurity

The adjunctive use of 5-fluorouracil and mitomycin C remarkably improves the success rate of glaucoma filtering surgery, but these antiproliferative agents may be toxic to other ocular tissues. The authors evaluated the effect of 5-FU and MMC on the blood-aqueous barrier. Sixteen pigmented rabbits were used, 7 for 5-FU group and 9 for MMC group. Five milligrams of 5-FU(0.1ml) was injected subconjunctivally in one eye of each animal in 5-FU group. In MMC group, we made limbus-based conjunctival flap on superotemporal area and applied MMC(0.4 mg/ml) soaked Week-cell sponge on subconjunctival-scleral space for 5 minutes and irrigated with 200 ml of normal saline. The contralateral eyes of each animal in both groups were used for control. We measured protein concentration in anterior chamber with the laser flare-cell meter(Kowa, FM-500). At 7 hours after operation, protein concentration in anterior chamber was significantly higher in 5-FU injected eyes(11.22 +/- 1.98 photons/msec, mean +/- S.D.) than control eyes(7.78 +/- 0.96 photons/msec) in the 5-FU group. There was no difference between MMC treated eyes and control eyes. MMC soaking is thought to be less harmful on the blood-aqueous barrier than 5-FU subconjunctival injection.
Animals ; Anterior Chamber ; Blood-Aqueous Barrier* ; Filtering Surgery ; Fluorouracil* ; Glaucoma ; Mitomycin* ; Porifera ; Rabbits