Abstract
Purpose::
To present a rare case of a patient who had a sudden onset of central vision loss associated with a central macular retinal arteriovenous malformation (AVM) and found to have structural photoreceptor loss and disorganization.
Methods::
The patient’s 28-year history of retinal disease was examined. Charts were reviewed from her initial presentation at age 19, to her recent evaluations at age 49. The anatomical structure of the patient’s central macula was studied with an adaptive optics (AO) fundus camera, high-resolution Fourier-domain-optical coherence tomography (Fd-OCT) and a hybrid AO-Fd-OCT instrument. The patient was also evaluated using multifocal-ERG, serial visual fields, fluorescein angiography, and Stratus OCT.
Results::
A 19-year old woman presented with a sudden loss of vision, and a central scotoma was documented in her right visual field. A central macular arteriovenous shunt vessel was noted to be immediately adjacent to her fovea. There was no evidence of macular edema, retinal hemorrhage, or subretinal fluid. Fluorescein angiography did not reveal any leakage.Over a 28-year follow-up the patient noted further deterioration of her central vision with a sudden increase in her deficits at age 47. Over this period, her eccentric vision declined from 20/25 to 20/400. On repeat examination, the central anomalous vessel appeared unchanged. Multifocal ERG and visual field testing demonstrated the unilateral central deficit. Fluorescein angiography was unchanged.High-resolution Fd-OCT imaging revealed focal photoreceptor disruption adjacent to the anomalous retinal vessel. En face AO images further revealed loss of the cone photoreceptors in these regions. There was also noted disorganization of the outer segments in adjacent areas. These changes were not detected during routine eye examination and Stratus OCT did not reveal these structural deficits.
Conclusions::
This case demonstrates the unique finding of progressive vision loss in a patient with a congenital macular retinal AVM without macular edema or subretinal fluid. Moreover, AO and high-resolution Fd-OCT imaging demonstrated focal photoreceptor damage and loss of outer segments that were undetectable by other imaging modalities. The cause of this photoreceptor damage is unclear; however, it may be due to sporadic leakage from the anomalous vessel or indirectly by flow changes through the vessel.
Keywords: retina • imaging/image analysis: clinical • pathology: human