Retinal detachment in a child with Frank-ter Haar syndrome

ABSTRACT

Background

To present a rare case of ocular involvement in a child with Frank-ter Haar syndrome (FTHS) presenting retinal detachment.

Materials and Methods

Detailed ophthalmological evaluation including examination under general anesthesia, ocular ultrasound, and visual evoked potential testing was completed. Photographic documentation of the physical findings was obtained.

Results

A 3-year-old female patient with FTHS was referred to evaluate for possible ophthalmic involvement. The patient presented with the classical dysmorphic abnormalities of the syndrome. Ophthalmologic evaluation revealed a high, against-the-rule corneal astigmatism in the right eye. In the left eye, the red reflex was absent with a suspicious membrane behind the lens, and a sensory exotropia was present. Ultrasonography confirmed retinal detachment with no history of previous trauma. Due to poor visual evoked potentials, no surgery was planned. Astigmatic refractive error was corrected with routine follow-up.

Conclusions

FTHS is associated with multiple ocular involvement such as megalocornea, congenital glaucoma, or colobomas. This case report is the first to describe a high, against-the-rule astigmatism and retinal detachment in a female child with FTHS and demonstrates that an early and detailed ophthalmological examination is essential for these patients.

KEYWORDS:

• Frank-ter Haar syndrome
• genetics
• retinal detachment
• SH3PXD2B

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Patient consent

The written consent of the patient was obtained, and the study was conducted in compliance with the Declaration of Helsinki.

Additional information

Funding

The author(s) reported that there is no funding associated with the work featured in this article.