3127 Linkage of autosomal dominant iris hypoplasia to the rieger syndrome locus (4q25)

PURPOSE: To assess the effect of change in pupU dianww induced by Tropicamide 0.5% on Snellen acuity and lclrcr cotmast senskivhy tn humans. METHODS: 20 eyes were ~sscssed wth the l'clli-Robson CS char1 and Sncllen chart pn-and posr-dilataGon (Tropicamide O.S%), with luminance kept at between ICUI and 1100 111x. RESULTS: Pupil dilatsdon was found to have lirde effect on SneUcn acuity: 13 eyes mining unchanged; six deteriorating by oue line and only one eye by two lines. However. 1erre.r contrw sensitivity showed a mo% signnifcaa reduction. only four eyes showed no change; six deteriorated by less than one triplet; seven eyes by btxwcen one and Iwo triplc~s sod two eyes by more than two niplea. CONCLUSION: The fall in con(~ast senstivity was dgnif~ieandy lcxs than previous studies. using square or sine wave. gratings. II was considered Ihat form vision was a tnajojor factor in reducing the level of vkunl disturbance resulting fnxn my&i&s. 3126 PSEIJDOXANTHOMA ELA!7TICUM: A CLINICAL AND GENEALDGIcAL STUDY Paeudoxanthoma Elasticum (PXE), a hereditary systemic disorder of the connective tissue, affects the elastic tissue in the cardiovascular system, the skin and the Bruch membrane in the eye, causing angioid streaks and neovascularisations, ultimately decreasing the visual acuity. A genetic locallsatkm for a gene implicated in PXE is not known. Two autosomal recessive and two autosomal do,ninant types have been described. We examined 15 patients, of seven nuclear families, living in a eenecicallv isolated area in The Netherlands. Pseudo-dominance with& this pedigree could be possible. The aim of the study was to #investigate all the family members clinically, and, if possible, to trace common ancestors. Blood samples were drawn in order to perform DNA linkage analysis. L?la!!a Clinicallv a full oohthalmoloeic. dermatoloeic and cardioloeic-investigation was performed. Genealogical investigation made it possible to trace the ancestors back in timt: to some founder couples, who lived more than 200 years ago. DNA linkage analysis was performed according fo standard procedun!s Jialts Patients and healthy individuals were identified by the methods described above. The mode of inheritance in this pedigree is most likely autnsomal recessive, while sometimes pseudodominance occurs. This pedigree proved to be sufficiently informative by computer simulation and statistical analysis. Clinical as well as genealogical data and linkage analysis with candidate loci es tibrillin 5, I5 and I7 will be presented. PurDos Iris hypoplasia is an autosomal dominant disorder which is frequently associated with glaucoma. This glaucoma b usually resistant …