Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome

ABSTRACT

Background

Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features.

Methods

Examination, multimodal imaging, and genetic testing were used to guide diagnosis and treatment.

Results

We report a combined phenotype of X-linked FEVR and ROP in a 4-month-old girl with mosaic Turner syndrome with ring X chromosome born at 26 weeks gestational age. She was initially diagnosed with atypical ROP with a vitreous band causing a localized traction retinal detachment, inferotemporal to the macula in the right eye, vessels to posterior zone 2 with no clear ridge temporally in the left eye, and fluorescein leakage in both eyes. Due to the suspicion of concurrent FEVR, genetic testing using a vitreoretinopathy panel was performed which revealed a mosaic Turner syndrome associated with 45,X/46,X,r(X), subsequently confirmed by chromosome analysis. The deleted region in the ring X chromosome included the NDP and RS1 genes. The patient was treated with laser photocoagulation of the peripheral avascular retina and sub-Tenon’s triamcinolone injection in both eyes, intravitreal injection of bevacizumab in the left eye, and pars plicata vitrectomy in the right eye.

Conclusions

In premature neonates with atypical ROP, a clinical suspicion of concurrent FEVR or similar vasculopathy is important and genetic testing may elucidate a genetic etiology, which could influence management and prognosis. Turner syndrome can be connected with co-occurring Mendelian gene disorders, particularly in individuals with mosaicism. The concurrence of FEVR and ROP appears to result in atypical and possibly more severe phenotypes.

KEYWORDS:

• Dual diagnoses
• familial exudative vitreoretinopathy
• retinopathy of prematurity
• ring X chromosome
• turner syndrome mosaicism

Acknowledgement

We thank the family for supporting this report.

Disclosure statement

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

Patient consent

Consent was obtained from the patient before the study and publication of the case report.

Supplemental data

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2022.2098987.

Additional information

Funding

SM is supported in part by gifts to the Mukai Fund, Massachusetts Eye and Ear, Boston, MA. NAP is supported by the Retina Innovation Fund, Massachusetts Eye and Ear, Boston, MA.