Purpose: We aim to describe the fundal fluorescein angiography (FFA) findings in a patient with COL4A1 mutation which to date has not been described in this condition. We hope to highlight the variability in ocular phenotypes seen in COL4A1 mutation, even between eyes in the same patient. Methods: Case Report. Results: A 14 year-old girl with a history of cerebral palsy, cerebral visual impairment and COL4A1 mutation with porencephaly has been attending the eye service for bilateral aphakic glaucoma with previous bilateral glaucoma tube surgery on Latanoprost, Brinzolamide and Timolol to both eyes. She developed a spontaneous right vitreous haemorrhage and anterior chamber hyphaema, subsequently requiring a vitrectomy and anterior chamber washout due to elevated intraocular pressure. Intraoperatively, she was noted to have extensive ischemic changes in the right eye. In her left fundus, there were sclerosed arterioles emanating from the disc, with the rest of the retina being normal. Despite the vitrectomy, the right eye vitreous haemorrhage and hyphaema recollected over time with persistently high intraocular pressure. She underwent a repeat vitrectomy and washout, subsequent cyclodiode laser and evisceration after she developed a painful blind right eye. During the course of her treatment, a FFA for her left eye was performed. Delay in arm-retinal time and a “fern-leaf” pattern of capillary leakage was noted. Discussion: The disease resulting from COL4A1 mutation is extremely variable. We report a patient with COL4A1 mutation with asymmetric retinal pathology with one eye eventually needing evisceration. This case highlights the need to have a high index of suspicion for early detection and asymmetric disease. There should be a low threshold for further evaluation such as FFA or optical coherence tomography (OCT) angiography to evaluate for ocular perfusion. Although COL4A1 is a systemic disease, it can have asymmetric presentation between two eyes.
Koh et al. (Fri,) studied this question.