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Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. Examination, multimodal imaging, and genetic testing were used to guide diagnosis and treatment. 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. 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. [ABSTRACT FROM AUTHOR]

Aims To evaluate the presence of cognitive bias among retinal specialists when recommending treatment options for cystoid macular oedema (CMO) secondary to retinal vein occlusion (RVO). Methods Two randomly chosen samples of retina specialists were surveyed regarding their treatment and dosing regimen choices among three antivascular endothelial growth factor (anti-VEGF) biologics (aflibercept, bevacizumab and ranibizumab), intravitreal steroid, focal laser and observation for the treatment of CMO secondary to RVO. The first group was asked to make recommendations for two hypothetical patients: one with CMO secondary to branch RVO (BRVO) and the second with CMO secondary to central RVO (CRVO). The second group was asked to make recommendations as if they themselves were the hypothetical patient with the same disease processes. Results The survey was completed by 492 respondents (20.1%). When comparing anti-VEGF agents for patients with BRVO, a majority of physicians recommended bevacizumab (60.5%) over ranibizumab (37.8%) and aflibercept (1.7%; p<0.0001). For themselves, physicians were more likely to recommend ranibizumab (44.9%) over bevacizumab (39.2%) and aflibercept (15.9%; p<0.0001). When comparing among the anti-VEGF agents chosen for patients with CRVO, a majority of physicians recommended bevacizumab (56.7%) over ranibizumab (28.2%) and aflibercept (15.1%; p<0.0001), but when choosing for themselves, retina specialists were equally divided among the three biologics (aflibercept 30.6%, bevacizumab 36.5% and ranibizumab 32.9%; p=0.559). The results were influenced by geographical location but not by the gender, the length of practice or the type of practice. Conclusions Physicians should be aware that cognitive biases exist and take this into consideration when making treatment recommendations for their patients. [ABSTRACT FROM AUTHOR]