Topic outline

  • Grand Rounds

    An infant born prematurely via emergency cesarean section at 27-weeks due to IUGR and fetal distress weighting 650 g was referred for the evaluation of incomplete vascularization of the retina. After birth, the patient spent 117 days in the neonatal intensive care unit (NICU), where he required oxygen, and his clinical course was complicated by neonatal sepsis, intraventricular hemorrhage, tonic-clonic seizures, respiratory distress syndrome, bronchopulmonary dysplasia, and pancytopenia. The patient’s medical history was also notable for osteopenia, recurrent seizures, feeding by gastrostomy tube, periventricular leukomalacia, and a patent foramen ovale. Ophthalmological evaluation was notable for bilateral incomplete peripheral vascularization, and blood vessels extending up to zone 1 and bilateral vitreous hemorrhage. The patient was treated with laser photocoagulation to the avascular peripheral retina of both eyes as well as intravitreal injection of bevacizumab bilaterally but did not respond as expected and additional IVBs and PRP sessions were required. On further investigation, the patient’s older brother who had been asymptomatic since birth, had recently been diagnosed with Coats plus syndrome after developing a left upper extremity tremor and having abnormal neuroimaging findings. Upon genetic testing of the younger brother, the same mutation in the CTC1 gene confirmed the diagnosis of Coats’ Plus Disease in our patient. Additionally, the ophthalmic examination of the older brother revealed incomplete vascularization of the retina and telangiectatic vessels. This case highlights the importance of keeping Coats plus syndrome in the differential diagnosis for ROP, and the essential use of neuroimaging and genetic analysis in the accurate diagnosis and management of patients presenting with retinal and systemic abnormalities not explained by prematurity alone.

    Presentation Date: 10/21/2021
    Issue Date: 11/05/2021