Korean J Ophthalmol.  2007 Dec;21(4):255-260. 10.3341/kjo.2007.21.4.255.

A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15

• Chung JL
• Kim SW
• Kim JH
• Kim TI
• Lee HK
• Kim EK

• KMID: 754646
• DOI: http://doi.org/10.3341/kjo.2007.21.4.255

Abstract

PURPOSE: To present a case of Weill-Marchesani syndrome with corneal endothelial dysfunction due to anterior dislocation of a spherophakic lens and corneolenticular contact. METHODS: A 17-year-old woman presented with high myopia and progressive visual disturbance. She was of short stature and had brachydactyly. Her initial Snellen best corrected visual acuity (BCVA) was 20/50 (-sph 20.50 -cyl 3.00 Ax 180) in her right eye and 20/40 (-sph 16.00 -cyl 6.00 Ax 30) in her left eye. Slit lamp examination revealed a dislocated spherophakic lens touching corenal endothelium. A microspherophakic lens, hypoplastic ciliary body, and elongated zonules were confirmed on rotating Scheimpflug camera (Pentacam(R)) and on ultrasound biomicroscopy. Specular microscopy showed corneal endothealial dysfunction. Systemic evaluation was performed, and chromosomal study showed 46, XX, inv (15) (q13qter). The patient was diagnosed with Weill-Marchesani syndrome. RESULTS: Due to impending corneal decompensation, phacoemulsification and suture fixation of the intraocular lens were performed. The operation and postoperative course were uneventful. Three months postoperatively, the visual acuity was 20/30 (OD) and 20/40 (OS) without correction, and BCVA was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD) and 20/25 (+sph 1.50 -cyl 3.00 Ax 30 : OS). During the follow-up period, increased corneal endothelial counts, hexagonality, and decreased corneal thickness were achieved. CONCLUSIONS: In Weill-Marchesani syndrome with a chromosomal anomaly, a dislocated spherophakic lens may cause severe corneal endothelial dysfunction due to corneolenticular contact, and prompt lensectomy is important to prevent such complications.

Keyword

Chromosome 15; Inversion; Lens dislocation; Spherophakia; Weill-Marchesani syndrome

MeSH Terms

*Abnormalities, Multiple
Adolescent
*Chromosomes, Human, Pair 15
Diagnosis, Differential
Dwarfism/*genetics
Endothelium, Corneal/pathology/ultrasonography
Female
Fingers/*abnormalities
Hand Deformities, Congenital/diagnosis/*genetics
Humans
Inversion, Chromosome/*genetics
Lens Implantation, Intraocular/methods
Lens Subluxation/diagnosis/*genetics/surgery
Microscopy, Acoustic
Phacoemulsification/methods
Syndrome

Figure

• 

  Fig. 1 X-ray of the hand showing brachydactyly, short metacarpal bones, and delayed carpal ossification.

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  Fig. 2 Slit lamp examination showing bilateral superonasal subluxation of the crystalline lens with the lens equator and zonule visible within the pupil.

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  Fig. 3 Specular microscopic examination showing decreased endothelial cell counts (743/675 cells per mm2) and hexagonality (33/0%) due to corneal endothelial dysfunction.

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  Fig. 4 On rotating Scheimpflug camera examination, increased anteroposterior diameter of the spherophakic lens (5200/5020 µm) and contact between the anteriorly dislocated lens and the central corneal endothelium were clearly demonstrated. The hypoplastic ciliary body (arrow) and elongated zonules (arrowhead) were also observed.

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  Fig. 5 Ultrasound biomicroscopic assessment revealed (A) a steep anterior lens curvature, angle narrowing and iridocorneal contact, (B) hypoplastic ciliary body (arrowhead) and elongated zonules (arrow) in her right eye, and (C) increased anteroposterior diameter of lens and iridocorneal/corneolenticular contact in her left eye.

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  Fig. 6 Chromosomal analysis of phytohemagglutinin stimulated peripheral lymphocytes by the Giemsa banding technique revealed 46, XX, inv (15) (q13qter) (red arrowhead).

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  Fig. 7 Three months postoperatively, the cornea was clear and the anterior chamber had deepened. The visual acuity was 20/30 (OD) and 20/40 (OS) without correction, and best corrected visual acuity was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD) and 20/25 (+sph 1.50-cyl 3.00 Ax 30 : OS).

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