You must have heard about a congenital heart complication, where babies are born with a hole in their hearts or bluish-purple discoloration of tissues. Nearly 10-12 in every 1000 babies in the US are born with a congenital birth defect, most of them needing immediate medical attention. Another complication of this defect is retinopathy which can progress into severe blindness.
Tetralogy of fallot (TOF), is a heart disease where lack of oxygen led obstruction to blood flow, causes neonates to varying intensities of discoloration. In case of retinopathy prematurity, prematurely born babies are found to have unusual blood vessel development in the back of the eye. This usually happens due to high oxygen levels that babies are exposed to in the incubator, that aberrantly gives cues for insufficient in some areas and overgrowth of the blood vessels in other areas of the retina. This form of retinopathy can progress to irreversible blindness, as therapy is quite limited for patients currently.
A few cases have recently been reported where patients diagnosed with TOF showed symptoms of retinopathy and some ocular abnormalities. A pair of sisters with a history of repaired TOF showed signs of retinal abnormalities as early as two years of age.1 In another case study, even adults aged between 27 and 47 years, with a history of similar heart defects showed abnormalities in retinal blood vessels.2
Given very few case reports published so far, it is difficult to conclude a possible correlation. The only possible reason given for development of these symptoms is ischemia or lack of oxygen to the tissues, a plausible area that needs to be chalked out further. Clinicians and researchers need to investigate the incidence rate and such patients should be monitored with follow-up ocular exams.
- Zanolli et al., Unusual retinal abnormalities in sisters with tetralogy of Fallot. Journal of AAPOS, vol. 18, no. 6, pp. 601–604, 2014.
- Tsui et al., Retinal vascular patterns in adults with cyanotic congenital heart disease. Seminars in Ophthalmology, vol. 24, no. 6, pp. 262–265, 2009.
Trupti Shetty is a PhD Candidate from the Dept. of Pharmacology & Toxicology at Indiana University. She works for Tim Corson in the Glick Eye Institute, studying ocular angiogenesis and she is interested in understanding the molecular pathways of blinding neovascular eye diseases. She tweets as @trups263 and likes connecting with science communicators around the globe. Be wary of her obsession with the Beatles and tendency to like funny dog videos. @trups263