Abstract
Purpose :
To describe the posterior segment and retinal features in nine patients with Pearson Syndrome
Methods :
Details of ophthalmic history, ocular examination, retinal imaging and surgical interventions were obtained during a median duration of 17 months of follow up (range 6-60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair.
Results :
Sixteen eyes of 9 patients were included. Axial length of 9 eyes was 23.80 ± 2.87 mm. Myopic changes including tessellated fundus and tilted optic disc were observed in all eyes (100%), while 11 eyes (68.8%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in 2 eyes (12.5%). Optical coherence tomography findings included diffuse retinal thinning, poor lamination of retinal layers, rudimentary foveal pits and absent photoreceptors lines. Surgical repair was performed in 5 out of 7 eyes with RRD. Recurrence was observed in all eyes which required 2 to 3 procedures to achieve final reattachment. Electrophysiological testing in 3 patients showed diminished rod response and markedly reduced cone responses.
Conclusions :
Combined features of high axial myopia with incomplete vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization.
This is a 2020 ARVO Annual Meeting abstract.