Abstract
Purpose :
The ocular findings in patients with Klinefelter syndrome (KS) have been described in isolated case reports and a case series that examined the eyes of 21 patients with KS. They found that KS patients had corneas with decreased peripheral thickness. Isolated case reports have found microphthalmia, uveal coloboma, cataracts, malformed pupils, and peripheral radial linear double-lined corneal stromal opacities. We present the first case, to our knowledge, of a child with Klinefelter syndrome with a congenital vascularized corneal opacity.
Methods :
Our patient presented as a 4-week-old with a large right corneal opacity noticed at birth. The patient’s mother had a normal pregnancy and delivery, and there is no family history of eye disease.
Results :
On an exam under anesthesia, the corneal diameter, intraocular pressure were within normal limits, the axial length was 19.32 mm in the right eye and 18.99 mm in the left eye. He had a vascularized dense corneal opacity involving 75% of the cornea in the right eye. No peripheral anterior synechiae or cataract was seen, the posterior segment appeared normal in both eyes. The patient underwent a penetrating keratoplasty of the right eye. Pathology showed a corneal scar with superficial stromal fibrovascularization, with a diffusely absent Bowman’s layer and scattered endothelial cells.
Conclusions :
Low testosterone may affect vascular tissue, and patients with KS have been reported to have aberrant vascularization such as altered testicular vascularization and cardiovascular risk factors with decreased endothelial progenitor cells. Although congenital corneal opacities or dystrophies are usually avascular and bilateral, our patient developed a highly vascular unilateral corneal lesion with scattered endothelial cells. Further research is required to better understand if Klinefelter syndrome may be associated with the development of corneal opacities.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.