Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Abstract

Purpose: This report illustrates that peripheral vascular leakage on ultra-widefield fluorescein angiography (FA) can occur in patients with inherited retinal degeneration (IRD) without evidence of a separate cause of leakage. Methods: We searched the electronic medical records of the Massachusetts Eye and Ear Infirmary from 2010 to 2019 for patients with an IRD diagnosis and examination with an ultra-widefield FA. Images from FAs were evaluated in masked fashion by 2 retina specialists. Documentation of an evaluation for alternative causes of vascular leakage was recorded, as well as results from electroretinography, Goldmann perimetry, and genetic testing. Results: A total of 305 patients with an IRD diagnosis and FA procedure code were identified. Of these, 26 patients had both a clinical diagnosis of IRD and ultra-widefield FA on detailed medical-record review. Three patients had FA to evaluate a Coats-like response and were excluded. Of the remaining 23, 4 patients (17%) had significant peripheral leakage on FA. Of these, 1 had pericentral retinitis pigmentosa (for which the genetic cause of disease was undefined), 1 had Refsum disease with confirmed biallelic PHYH mutations, 1 had a CRB1-associated macular dystrophy, and 1 had CERKL-associated macular dystrophy. There was no evidence of ocular inflammation from history, examination, or laboratory testing to account for the FA findings. Of the 19 patients without significant leakage, 4 had minimal leakage and 15 had no peripheral leakage. Conclusions: Peripheral retinal vascular leakage can be seen on ultra-widefield FA in patients with IRD that is likely due to the IRD disease process itself rather than to an additional, distinct eye condition.

Rp2 X-Linked Retinitis Pigmentosa Carrier State Presenting With Vascular Leakage and Unilateral Macular Atrophy

“…The degree of skewing of X-chromosome inactivation for an individual patient is correlated with overall clinical severity in carriers of RPGR -XLRP. 9 Of note, peripheral leakage on wide-field fluorescein angiography has been reported in patients with inherited retinal disorders, 10 but to the best of our knowledge, it has not previously been reported in a carrier state. Indeed, considering angiography in patients with suspected inherited retinal dystrophies may aid in the clinical phenotyping of complex case presentations.…”

Ultra-Widefield Imaging of Peripheral Vascular Abnormalities in Idiopathic Macular Telangiectasia Type 1

“…UWF imaging systems have led to the identification of peripheral retinal abnormalities in healthy eyes 8 and in a wide range of retinal diseases including uveitis, 9 diabetic retinopathy, 10 pathologic myopia, 11 inherited retinal diseases, 12 and retinal vein occlusion. 13 Detecting peripheral nonperfusion has 3).…”

“…UWF imaging systems have led to the identification of peripheral retinal abnormalities in healthy eyes 8 and in a wide range of retinal diseases including uveitis, 9 diabetic retinopathy, 10 pathologic myopia, 11 inherited retinal diseases, 12 and retinal vein occlusion. 13 Detecting peripheral nonperfusion has been shown to be important in managing eyes with retinal vascular diseases, 14 and the extent of nonperfusion has been associated with ME severity and treatment response.…”