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

Mentions: A 17-year-old woman was referred to our clinic with high myopia and progressive visual disturbance. Her height was 147 cm, and her body weight was 50.6 kg. She had brachydactyly and short metacarpal bones on X-ray images of the hand (Fig. 1). Initial Snellen uncorrected visual acuity (UCVA) was 2/200 in both eyes, and 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. A-scan biometry revealed that the axial lengths of her eyeballs were 23.65/23.30 mm, suggesting a lenticular origin for her myopia. She had been treated with bilateral laser peripheral iridotomies at a local clinic two years ago. Despite this treatment, her initial intraocular pressure (IOP) was 26/22 mmHg by Goldmann applanation tonometry. Slit lamp examination of both eyes before pupillary dilation showed edematous corneas, extremely shallow anterior chambers, open peripheral iridectomy and iridocorneal/ corneolenticular contact. After pupillary dilation, IOP decreased to 22/19 mmHg, due to ciliary muscle relaxation. Slit lamp examination revealed bilateral superonasal subluxation of the crystalline lens with the lens equator and zonule visible within the pupil (Fig. 2). Central corneal edema was observed because the anteriorly dislocated lens was touching corneal endothelium. Due to corneal endothelial dysfunction, endothelial cell counts (743/675 cells per mm2) and hexagonality (33/0%) were decreased on specular microscopy (Cell Chek®, Konan, Tokyo, Japan) (Fig. 3), and central corneal thickness was increased to 672/712 µm on ultrasonic pachymeter (UP-1000®, Nidek, Maehama, Japan). On rotating Scheimpflug camera (Pentacam®, Oculus, Wetzlar, Germany) examination, increased anteroposterior diameter of the spherophakic lens (5200/5020 µm), hypoplastic ciliary body, elongated and stretched zonules, and the anteriorly dislocated lens touching central corneal endothelium were clearly demonstrated (Fig. 4). Ultrasound biomicroscopic assessment (HiScan®, Optikon, Rome, Italy) revealed a steep anterior lens curvature, angle narrowing, iridocorneal and corneolenticular contact, hypoplastic ciliary body and elongated zonules (Fig. 5). Chromosomal analysis of phytohemagglutinin stimulated peripheral lymphocytes by Giemsa banding technique revealed 46, XX, inv (15) (q13qter) (Fig. 6). The patient's parents and two sisters demonstrated normal cytogenetic examination and crystalline lens morphology.


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)

Specular microscopic examination showing decreased endothelial cell counts (743/675 cells per mm2) and hexagonality (33/0%) due to corneal endothelial dysfunction.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 3: Specular microscopic examination showing decreased endothelial cell counts (743/675 cells per mm2) and hexagonality (33/0%) due to corneal endothelial dysfunction.
Mentions: A 17-year-old woman was referred to our clinic with high myopia and progressive visual disturbance. Her height was 147 cm, and her body weight was 50.6 kg. She had brachydactyly and short metacarpal bones on X-ray images of the hand (Fig. 1). Initial Snellen uncorrected visual acuity (UCVA) was 2/200 in both eyes, and 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. A-scan biometry revealed that the axial lengths of her eyeballs were 23.65/23.30 mm, suggesting a lenticular origin for her myopia. She had been treated with bilateral laser peripheral iridotomies at a local clinic two years ago. Despite this treatment, her initial intraocular pressure (IOP) was 26/22 mmHg by Goldmann applanation tonometry. Slit lamp examination of both eyes before pupillary dilation showed edematous corneas, extremely shallow anterior chambers, open peripheral iridectomy and iridocorneal/ corneolenticular contact. After pupillary dilation, IOP decreased to 22/19 mmHg, due to ciliary muscle relaxation. Slit lamp examination revealed bilateral superonasal subluxation of the crystalline lens with the lens equator and zonule visible within the pupil (Fig. 2). Central corneal edema was observed because the anteriorly dislocated lens was touching corneal endothelium. Due to corneal endothelial dysfunction, endothelial cell counts (743/675 cells per mm2) and hexagonality (33/0%) were decreased on specular microscopy (Cell Chek®, Konan, Tokyo, Japan) (Fig. 3), and central corneal thickness was increased to 672/712 µm on ultrasonic pachymeter (UP-1000®, Nidek, Maehama, Japan). On rotating Scheimpflug camera (Pentacam®, Oculus, Wetzlar, Germany) examination, increased anteroposterior diameter of the spherophakic lens (5200/5020 µm), hypoplastic ciliary body, elongated and stretched zonules, and the anteriorly dislocated lens touching central corneal endothelium were clearly demonstrated (Fig. 4). Ultrasound biomicroscopic assessment (HiScan®, Optikon, Rome, Italy) revealed a steep anterior lens curvature, angle narrowing, iridocorneal and corneolenticular contact, hypoplastic ciliary body and elongated zonules (Fig. 5). Chromosomal analysis of phytohemagglutinin stimulated peripheral lymphocytes by Giemsa banding technique revealed 46, XX, inv (15) (q13qter) (Fig. 6). The patient's parents and two sisters demonstrated normal cytogenetic examination and crystalline lens morphology.

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