Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies

Holmström, Gerd; Wijngaarden, Peter van; Coster, Douglas J.; Williams, Keryn A.

doi:10.1136/bjo.2007.117283

Cited by 50 publications

(31 citation statements)

References 79 publications

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“…[33] However, in recent case-control studies of these genes in ROP, mutations only accounted for 3–11% of ROP cases. [33–36] Additional studies of the molecular and genetic basis of ROP will help improve our understanding of disease pathophysiology and our ability to identify infants at risk for disease.…”

Section: Discussionmentioning

confidence: 99%

Risk factors for retinopathy of prematurity: insights from outlier infants

Port

Chan

Ostmo

et al. 2014

Graefes Arch Clin Exp Ophthalmol

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Purpose To investigate the characteristics of outlier infants for insights into ROP risk. Methods Chart data were collected from 1354 infants screened for ROP at Weill Cornell Medical Center and Columbia University Medical Center. ROP exam results and clinical risk factors were recorded. The cohort was stratified by weight, highest ROP stage, and need for ROP treatment. Descriptive and correlational statistics were performed. Results For the overall cohort, regression analysis found that birth weight (OR: 0.741 per 100g; 95% CI: 0.606, 0.905), gestational age at birth (OR: 0.563 per week; 95% CI: 0.454, 0.697), multiple gestation (OR 2.02, 95% CI: 1.15, 3.56), bronchopulmonary dysplasia (OR: 4.68, 95% CI: 1.93, 11.35), and necrotizing enterocolitis (OR 2.80, 95% CI: 1.40, 5.16) were independent risk factors for treatment-requiring ROP. Black race was found to be a protective factor for treatment-requiring ROP (OR 0.244, 95% CI: 0.095, 0.626). Among 15 infants with BW <500g, there were no significant differences in any clinical risk factors between the 12 (80%) with ROP vs. the 3 (20%) without ROP. Similarly, among infants with BW >1500g, the 17 (9%) with ROP only differed from the 166 (91%) without ROP with respect to a higher incidence of necrotizing enterocolitis among those with ROP (11.8% vs 0%). Conclusions Although known clinical risk factors were predictive of ROP stage and need for laser treatment in this cohort, they were not significantly associated with ROP at extremes of birth weight. This suggests that other clinical, maternal, or genetic factors may protect from or predispose to ROP.

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Section: Discussionmentioning

confidence: 99%

Risk factors for retinopathy of prematurity: insights from outlier infants

Port

Chan

Ostmo

et al. 2014

Graefes Arch Clin Exp Ophthalmol

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show abstract

“…However, there are both clinical and experimental studies which indicate a strong genetic susceptibility to ROP. 26 The nature of the present study was mainly explorative, and gene expression in the whole eye was analyzed. Whereas different parts of the eye have different metabolic demands and susceptibility to oxygen supply (hypoxia-hyperoxia), 27,28 the retina is at particular risk to hypoxic damage.…”

Section: Discussionmentioning

confidence: 99%

Hypoxia–Reoxygenation Affects Whole-Genome Expression in the Newborn Eye

Wollen

Kwinta

Bik-Multanowski

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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“…However, ROP can occur even with carefully controlled oxygen therapy. Although many causative factors have been suggested, such as excessive light exposure, supplemental oxygen and hypoxia , male gender, ethnicity , low gestational age, low birth weight , presence of sepsis , IVH, blood transfusions, RDS, BPD, mechanical ventilation and multiple pregnancies , the pathogenesis of advanced ROP is not completely understood. In addition, the effect of antenatal and postnatal steroids on the incidence and severity of ROP is contradictory .…”

Section: Discussionmentioning

confidence: 99%