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A case of Weill-Marchesani syndrome with inversion of chromosome 15.

Chung JL, Kim SW, Kim JH, Kim TI, Lee HK, Kim EK - Korean J Ophthalmol (2007)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.

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) 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.

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Related in: MedlinePlus

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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Figure 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).

Mentions: Since this patient showed impending corneal decompensation, surgical extraction of the crystalline lens was performed in the left eye. After 3.2 mm-sized scleral tunnel incision, phacoemulsification and irrigation/aspiration of the nucleus and cortex were performed in the capsular bag. The wound was enlarged to 7.0 mm for sclera-sutured sulcus fixation of a polymethyl methacrylate intraocular lens (CZ70BD, Alcon, Fort Worth, USA). The intraocular lens was sutured to the sclera 1.0 mm from the limbus with a 10-0 polypropylene suture. Two weeks later, the same procedure was performed in the right eye. One month postoperatively, the visual acuity was 20/40 without correction in both eyes. Three months after surgery, UCVA was 20/30 (OD) and 20/40 (OS), and BCVA was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD), 20/25 (+sph 1.50 -cyl 3.00 Ax 30 : OS). On slit lamp examination, the cornea was clear and the anterior chamber had deepened (Fig. 7). Endothelial cell counts had increased to 1774 / 2882 cells per mm2 on specular microscopy. Six months postoperatively, the same visual acuities and endothelial cell counts were maintained (Table 1).


A case of Weill-Marchesani syndrome with inversion of chromosome 15.

Chung JL, Kim SW, Kim JH, Kim TI, Lee HK, Kim EK - Korean J Ophthalmol (2007)

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).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2629893&req=5

Figure 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).
Mentions: Since this patient showed impending corneal decompensation, surgical extraction of the crystalline lens was performed in the left eye. After 3.2 mm-sized scleral tunnel incision, phacoemulsification and irrigation/aspiration of the nucleus and cortex were performed in the capsular bag. The wound was enlarged to 7.0 mm for sclera-sutured sulcus fixation of a polymethyl methacrylate intraocular lens (CZ70BD, Alcon, Fort Worth, USA). The intraocular lens was sutured to the sclera 1.0 mm from the limbus with a 10-0 polypropylene suture. Two weeks later, the same procedure was performed in the right eye. One month postoperatively, the visual acuity was 20/40 without correction in both eyes. Three months after surgery, UCVA was 20/30 (OD) and 20/40 (OS), and BCVA was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD), 20/25 (+sph 1.50 -cyl 3.00 Ax 30 : OS). On slit lamp examination, the cornea was clear and the anterior chamber had deepened (Fig. 7). Endothelial cell counts had increased to 1774 / 2882 cells per mm2 on specular microscopy. Six months postoperatively, the same visual acuities and endothelial cell counts were maintained (Table 1).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.

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) 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.

Show MeSH
Related in: MedlinePlus