Vol.15, No 1, 2008 pp. 37 - 40
UC 616-056.7:617.7

OCULAR FEATURES OF MARFAN SYNDROME
Gordana Stanković- Babić, Milena Vujanović, Jasmina Đorđević-Jocić, Sonja Cekić
Ophthalmology Clinic Clinical Center Niš, Serbia
E-mail: gordanasb@nadlanu.com

Summary. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems.  In 90–93 % of cases, MFS is caused by a mutation in fibrillin–1 (FBN1) on chromosome 15. The prevalence of MFS is at least 1/ 5000. The disease has no ethnic or gender predilection and shows an extremely high penetrance but marked inter- and intra-familial variability. The diagnosis of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability. The paper presents two twelve-year-old girls who, owing to the problem of poorsightedness, were sent to a consultational examination to the Orthoptic and Pleoptic Cabinet of our clinic. Both of them are typically high, gracious, with long limbs, and with a deformity of the spinal column and chests. They are quiet, reserved and shortsighted with a myopic refraction of the eye, the temporal and upper-bilateral subluxation of the lens, as well as with the enlarged axial diameter of the eye. Suspected to suffer from Marfan syndrome, they were sent to a pediatrician and neuropsychiatrist for further examinations. Marfan syndrome requires early integral and update management by a multidisciplinary group, to obtain the best quality of life and survival.
Key words: Marfan syndrome, ocular features

OČNE KARAKTERISTIKE U MARFANOVOM SINDROMU
Kratak sadržaj: Marfanov sindrom (MFS) je autozomno dominantni poremećaj vezivnog tkiva koji zahvata kardiovaskularni, skeletni sistem i oči. U 90-93% slučajeva MFS je uzrokovan mutacijom fibrilina -1(FBN1) na hromozomu 15. Prevalenca MFS je 1 /5000. Bolest nema etničku ni polnu predilekciju i pokazuje ekstremno visoku penetraciju sa značajnom inter – i intra – familijarnom varjabilnošću. Dijagnoza Marfanovog sindroma zahteva multidisciplinarni timski pristup, obzirom na multisistemske efekte i fenotipske razlike. Radom se prikazuju dve dvanaestogodišnje devojčice koje zbog slabog vida bivaju upućene na konsultativni pregled u Kabinet za ortoptiku i pleoptiku naše klinike. Obe su tipičnog visokog rasta, dugih ekstermiteta, gracilne, sa deformitetom kičmenog stuba i grudnog koša, tihe, povučene, slabovide sa miopnom refrakcijom oka, subluksacijom sočiva temporalno i gore obostrano, uvećanim aksijalnim prečnikom oka. Pod sumnjom na Marfanov sindrom upućene su pedijatru i neuropsihijatru na dodatne preglede. Marfanov sindrom zahteva rani, integralni i blagovremeni multidisciplinarni tretman, kako bi se pružio najbolji kvalitet života i opstanka obolelih.
Ključne reči: Marfanov sindrom, očne promene