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
