Obstet Gynecol Sci.  2015 Jul;58(4):309-313. 10.5468/ogs.2015.58.4.309.

Hyperplastic primary vitreous with hemorrhage manifested as a hyperechoic mass in the fetal orbit by prenatal ultrasound in a case of isolated unilateral microphthalmia

• Yeom W
• Kim MN
• Choi SJ
• Oh SY
• Roh CR
• Kim JH

• KMID: 2314052
• DOI: http://doi.org/10.5468/ogs.2015.58.4.309

Abstract

Congenital microphthalmia is a rare anomaly of the fetal orbit resulting from developmental defects of the primary optic vesicle. Chromosomal anomalies, genetic defect, infection, and prenatal drug exposure are the most common causes. Congenital microphthalmia is usually associated with other abnormalities, and cases of isolated microphthalmia are rarely reported. Congenital microphthalmia can be diagnosed by prenatal ultrasound by measuring the axial diameter of the eye ball, but the accuracy depends on fetal position and associated anomalies. We report a case of an isolated unilateral microphthalmia which was not diagnosed by prenatal ultrasound, because the only abnormal prenatal ultrasound finding was a small hyperechoic mass lesion in the eye ball and the subsequent scan of the orbits was limited due to fetal prone position. The hyperechoic mass lesion in the eye ball was finally diagnosed as a persistent hyperplastic primary vitreous with hemorrhage by neonatal magnetic resonance image.

Keyword

Microphthalmos; Prenatal ultrasound

MeSH Terms

Hemorrhage*
Microphthalmos*
Orbit*
Persistent Hyperplastic Primary Vitreous
Prone Position
Ultrasonography*

Figure

• 

  Fig. 1 (A) A hyperechoic mass lesion (6.2 mm, arrow) in the right eye ball at posterior medial side of the lens adjacent to the hyaloid artery by ultrasound at 29 weeks of gestation. (B) A normal right lens with no specific finding of congenital cataract by ultrasound at 29 weeks of gestation. (C) The right and left orbital coronal diameter was 13.2 and 13.5 mm by ultrasound at 29 weeks of gestation. (D) A 6.6-mm-sized hyperechoic mass lesion in right eye ball by ultrasound at 31 weeks of gestation.

• 

  Fig. 2 (A) Right microphthalmia by postnatal orbit magnetic resonance image (MRI), T2 weighted, coronal image. (B) A soft tissue lesion at posteromedial aspect of the right lens by postnatal orbit MRI, T2 weighted, axial image (arrow). (C) Right microphthalmia with persistent hyperplastic primary vitreous with hemorrhage by postnatal orbit MRI, T1 weighted, coronal image. (D) Right optic nerve atrophy (arrow) by postnatal orbit MRI, T1 weighted, axial image.

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