MEIBOMIAN GLAND DYSFUNCTION WITH INVOLUTIONAL EYELIDS MALPOSITION©

A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene ( MYOC/TIGR ) and in exons 4 and 5 of the optineurin gene ( OPTN ), where most of the mutations revealed worldwide are located. The Q368X mutation (c. 1102 C T) in exon 3 of MYOC/TIGR was detected in 1.2% (2/170) of the POAG patients from St. Petersburg, i.e., with the frequency close to that observed in other world populations. Three known polymorphisms in exon 3 of MYOC/TIGR were detected in glaucoma patients, namely Y347Y (c. 1041 T C) (12.4%), T325T (c. 975 G A) (0.6%), and K398R (c. 1193 A G) (0.6%).No statistically significant differences in frequencies of these polymorphisms were revealed between the POAG patient and control groups. The L41L polymorphism (c. 433 G A) in exon 4 of OPTN was detected in 2.9% of probands and in 1% of controls. The frequency of heterozygotes for the M98K polymorphism (c. 603 T A) in the OPTN exon 5 was statistically significantly higher ( P = 0.036; Fisher's exact test) among the POAG patients (6.5%) than among the controls (1%). In the sample examined the E50K (c. 458G A) mutation, typical of the patients with pseudonormal intraocular pressure glaucoma (commonly known as low-tension glaucoma, LTG) was not found. RUSSIAN JOURNAL OF GENETICS Vol. 41 No. 11 2005 RAKHMANOV et al . HUMAN GENETICS

Pseudoexfoliation syndrome (PEX) is a relatively widespread generalized age-related disease of connective tissue. It seems reasonable to evaluate the condition of ocular adnexa in patients with PEX. Purpose. To evaluate the condition of ocular adnexal tissue in PEX. Methods. 132 eyes of 66 patients with PEX syndrome and 128 eyes of 64 patients without it were enrolled in the prospective study. We evaluated function of upper eyelid levator muscle, lower eyelid retractors, horizontal lid laxity (HLL), canthal integrity, degree of retractors disinsertion and tone of orbicularis muscle. Results. HLL, degree of retractors disinsertion, laxity of medial canthal tendon were statistically significantly more expressed in patients with PEX (p < 0,05). The tone of orbicularis muscle and function of lower eyelid retractors were statistically lower in patients with PEX (p < 0,05). The function of eyelids levator muscle, tone of lateral canthal tendon and degree of ptosis were similar in both groups. Conclusion. Signs of atonic changes of ocular adnexa are relatively more common in patients with PEX (p < 0,05).

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