M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

RESUME
Background: Marfan's Syndrome has been reported to occur in 8 to 10 per 100.000 of
population/year. Ocular features of this syndrome have been extensively reported. We
report two patients of the same family with miscellaneous complications of this
syndrome. Case presentation: Two sisters with Marfan‘s Syndrome were examinated in
our clinic. They revealed several ocular complications as bilateral spontaneous complete
posterior lens dislocation, total rhegmatogenous retinal detachment, secondary glaucoma,
etc. Surgical and conservative treatment was applied to these patients with relative
successful results. They were also referred to cardiologist for further examinations.
Conclusions: Ocular complications are commonly found in Marfan‘s Syndrome.
Anyway such complications as total rhegmatogenous retinal detachment, secondary
glaucoma, etc need prompt and energetic treatment to minimize severe visual loss in
these patients.
Key words: Marfan Syndrome, ocular complications, bilateral spontaneous lens
dislocation, retinal detachment, secondary glaucoma, intervention, visual loss.
Medicus 2009, Vol. XI (1):
BACKGROUND
Marfan's Syndrome has been reported to occur in 8 to 10 per 100.000 of
population/year (1). Ocular features of this syndrome have been extensively reporter (2).
Ectopia lentis, the most common ocular feature, occurs in 70 to 80 % of cases (3, 4, 5, 6,
7). Isolated reports of spontaneous complete posterior luxation lying over the retina, or
producing secondary complications like glaucoma or uveitis exist in literature (7).
However, bilateral posterior dislocation is a rare fature (4).
In this presentation we report two familial cases (sisters) of established Marfan's
Syndrome with bilateral spontaneous posterior lens dislocation, total rhegmatogenous
retinal detachment, secondary glaucoma, etc.
CASE PRESENTATION I
A 32 year old female (L.K.) presented in our clinic with acute painless visual loss
in the right eye of two days duration and chronic pain in the left eye. On systemic
examination she had skeletal abnormalities (long, thin extremities), arachnodactly and
high-arched palate; findings consistent with diagnosis of Marfan's Syndrome (Figure 1 ab).
Ocular examination revealed in the right eye a visual acuity of hand movement (no
correction) and 3/20 (sph.+4.5 D; cyl.+1.75 X 170°) in the left eye. Intraocular pressure
was OD = 13 mm Hg and OS = 36 mm Hg. According to the anamnesis, she had
glaucoma surgery (?!) (Trabeculectomy and basal iridectomy) when she was 18 years old
and reported to us that her little sister has visual disturbances too.
Figure 1 Here …