3446 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

To measure epithelial cell strwming in the rat conjunctiva. Methods Twenty seven female adult rats were injected with 18.5 KBq [3H]-thy&dine. Three rats were killed at different times up to 28d. Eyes and eyelids were removed in one piece. cut along the pupillary-optic nerve line into 5ym-thick. sections. and prepared for autoradiography. In each eye, the entire upper conjunctiva extending from limhus up to the palpehral muco-cutaneous junction was scanned starting at the limhus. The x, y co&iinate of each nucleus with two grains or more and its grain content were recorded. &&a One hour after laheling, 1ahelt:d cells were spread evenly along the hasal layer. Cells of the upper la.yers were not labeled. As time oassed hv. labeled cells in the fornix hecame more abundant, while in ihe limh& and palpehral margin, their frequency declined. Labeled cells streamed from limhus to fornix at a velocitv of 13.2 um/dav. Labeled conjunctival epithelia in the palpehra streimed fro; the palpehral muco-cutaneous junction toward the fomix at a velocity of 11.8 pm/day. At the same time conjunctival epitheli:l streamed through the supra-hasal layers at a velocity of 0.4 pm/day. Generation time was 3.9 days.. ConLluslons Bulhar and palpehral conjunctivae are two independent cell kinetic systems each made of two compartments, a progenitor where cells proliferate, feeding a compartment of end cells. We propose that palpehml conjunctival epithelium originates fmm a stem cell located at the muco-cutaneous junction of the palpehra. Bulhar conjunctival cells originate in an undetermined stem cell of the limhus, that generates two epithelial cell lines, a cornea1 and a conjunctival. BLEPRAROPHIMOSIS-PTOSIS-EPICANTEUS INVERSUS SYNDROME (BPES) : clinical subtypes and their genotype. We try to better delineate the previously described clinical subtypes of this autosomal dominant syndrome and to shed some light on the underlying molecular genetic mechanisms. MfTtbdS: We shrdied a large family with BPES with 17 affected members in 4 genem-tions. Clinical examination and pedigree analysis were performed, as well as chromosomal and molecular genetic analysis of the region previously implied in this syndrome (chromosome 3q23). Clinical examination and pedigree analysis showed BPES in this family to be of subtype II, i.e. with normal female fertility. Intrafamilial variation in clinical expression was present. Chromosomal studies yielded normal results. Molecular analysis showed linkage to markers in the q23 region of chromosome 3. Some misconceptions on the clinical fezltures of BPES patients still prevail in the literahlre A gene responsible for …