Abstract

P 304

Family history, morphology, frequency of glaucoma and time of diagnosis in 22 patients with Marfan syndrome or marfanoid features

Constantin Reiter1, Eugen Gramer1, Gwendolyn Gramer2
1Universitäts-Augenklinik Würzburg; 2Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg

Objective
Purpose: Evaluation of patients with ectopia lentis and Marfan Syndrome (MF) or marfanoid features for: Frequency of MF and ectopia lentis in family history, frequency and direction of lens luxation, frequency of myopia, retinal detachment, strabism, cardiovascular and skeletal manifestation, age of patients at time of diagnosis, prognosis and visual acuity and frequency of glaucoma (GL) or ocular hypertension (OH) in relation to age of the patient at diagnosis.
Methods
Retrospective analysis of ophthalmologic, paediatric and internal findings in 22 not related, consecutively examined patients with lens dislocation in at least one eye and marfanoid features. Statistics: Mann-Whitney Test (two tailed).
Results
MF in family history was found in 3 patients (13,6%) with 3, 4, or 8 relatives presenting lens-dislocation and MF or marfanoid features. Bilateral lens dislocation had 90,9%. Direction of dislocation: 59% upwards, 13,6% downwards, and 18,1% into the anterior chamber or vitreous body(VB). Patients with lens dislocation upwards were significantly younger at diagnosis than patients with dislocation downwards (23,7±17,6 vs. 50,6±15,9 years)(p=0,0436). 40,9% had myopia, 13,6% retinal detachment, 9% retinal degenerations, 36% strabismus, 13,6% arachnodactyly, 13,6% cardial diseases. Mean age at diagnosis: 29,9±18 years (3-64 y.). Visual acuity of the better eye was in 40,9% of patients >100/200 and in 18,2% <20/200. GL or OH had 45,4%, and were significantly older at diagnosis than patients without GL (39,8±15,9 vs. 21,7±15,9 years)(p=0,0178). Casuistic: one female index patient and her monozygous twin sister had lens luxation into the VB, high myopia and glaucoma, and the only daughter of her twin sister had a bilateral lens luxation into the VB at the age of four years. Two further sisters and their three daughters all had lens luxation too. Four brothers of the index patient as well as the daughter and three sons of these brothers have all healthy eyes. Therefore lens luxation was seen in two generations in eight of nine female and in none of eight male relatives.
Conclusions
The age of the patients at time of diagnosis was in childhood or adolescence in 36,4%, with some patients not showing any systemic symptoms of MF until adolescence. The direction of lens dislocation only is not sufficient for differential diagnosis. Prevalence of GL or OH in patients with MF increases with age independently from myopia.

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