[Weill Marchesani syndrome. Report of a case].
Weill Marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities. The authors report a 19-year-old male, born of a consanguineous marriage, with a progressive decrease in visual acuity. The general examination showed a squat look, dwarfism, muscle hypertrophy, short hands and feet, and joint stiffness. The ophthalmological examination showed that visual acuity was limited to hand motion in the right eye despite correction and no perception of light in the left eye. Intraocular pressure was 36 mmHg in the right eye and 40 mmHg in the left eye. The anterior chamber was irregular with iridophakodonesis and microspherophakia of both lenses. The zonula was partially ruptured in the right eye. The iridocorneal angle was narrow. Fundus eye examination showed a pale optic disc with an excavation of 9/10 on the right. In the left eye, the optic disc was totally excavated. Cardiovascular check-up revealed rheumatic aortic valvular cardiopathy. The therapy consisted of combined surgery: phakophagia with anterior vitrectomy plus trabeculectomy operated on the right eye. Weill Marchesani syndrome is a rare congenital affection with a recessive autosomal transmission. The visual prognosis is dominated by secondary glaucoma due to pupillary blockage by the mobile eye lens. This observation illustrates the seriousness of spontaneous progression in Weill Marchesani syndrome, justifying the necessity of lens extraction before the onset of complications.
el Kettani
A
A
Service d'Ophtalmologie, hôpital 20 Août 1953, CHU Ibn Rochd, Casablanca, Maroc.
Hamdani
M
M
Rais
L
L
el Belhadji
M
M
Rachid
R
R
Laouissi
N
N
Zaghloul
K
K
Amraoui
A
A
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome