Three Cases of Congenital Retinal Macrovessel, One Coexisting with Cilioretinal Artery.

In this report, we describe three cases of retinal macrovessel. Two of the three patients presented to our clinic for annual eye exam and had no visual complaints. The third patient presented because of vision loss in the left eye. Two patients had 20/20 best corrected visual acuity in both eyes and the third patient had 20/20 in the right eye, 20/25 in the left eye. Pupillary exams were normal. Slit-lamp examinations of the anterior segment were unremarkable. Fundus examination revealed macrovessels in the left eyes of two patients and in the right eye of one patient. The patients underwent complete ophthalmological examinations including color fundus photography for all three patients and optic coherence tomography, fundus autoflorescence, and fundus fluorescein angiography for two of the patients. Cilioretinal artery coexisting with macrovessel was seen angiography in one case. Congenital retinal macrovessel is a rare vascular condition. It is often unilateral and the vessel is an aberrantly large branch of the retinal arteries or veins. They may cross the fovea and their visual impact is minimal. The coexistence of congenital retinal macrovessel and cilioretinal artery is very rare. Visual impairment may occur in congenital retinal macrovessel due to retinal cavernous hemangioma, foveal cysts, central serous retinopathy, and other retinal vascular abnormalities.

Introduction

Mauthner[1] first reported a large aberrant retinal vessel crossing the macula in 1869. In 1982, Brown et al.[2] described the clinical and fluorescein angiographic features of congenital retinal macrovessel (CRM) in seven patients. Impairment of vision in the involved eye is uncommon and is characterized by foveal cyst, macular hemorrhage, serous macular detachment, branch retinal artery occlusion or other vascular abnormalities.[3] CRM occurs mainly in veins but more rarely may stem from an artery or artery and vein together.[4] Beatty et al.[5] in this case report we present a cilioretinal artery connecting with a CRM, suggesting that such patients are at increased risk of retinal vascular decompensation. Herein, we present three cases showing no vision loss in routine ophthalmological examination, and interestingly, one patient had both CRM and cilioretinal artery.

Case Reports

Case 1: An 8-year-old healthy female patient applied to our ophthalmology department for routine ophthalmic evaluation. Her personal and family medical histories were unremarkable. On ophthalmic examination, her best-corrected visual acuity was 20/20 in both eyes. Anterior segment examination of both eyes was normal. Intraocular pressures were within normal limits. Fundus examination was normal in the left eye but revealed a large macrovessel crossing the horizontal raphe adjacent to the fovea in the right eye (Figure 1). The patient was evaluated only with fundus photography because the patient’s family did not consent to fundus fluorescein angiography (FFA) and optical coherence tomography (OCT).

Figure 1

Case 1: fundus photograph at presentation showed a large macrovessel is passing superior to the fovea extending along the papillomacular bundle and showing tortuosity of the vessels

Case 2: A 6-year-old female patient was brought to us due to reduced vision in the right eye. In our ophthalmic examination, we detected astigmatism in the right eye but best-corrected visual acuity (BCVA) was 20/20 in both eyes using a Snellen chart. Anterior segment and funduscopic examination of the right eye were unremarkable. Examination of the macula of the left eye revealed a large superior macrovessel crossing the horizontal raphe with several tributaries adjacent to the fovea. Furthermore, the abnormal vein was accompanied by a cilioretinal artery (Figure 2a). The patient was evaluated with fundus photograph, FFA, fundus autofluorescence (Figure 2b), and spectral domain (SD)-OCT. FFA showed early filling of the venous macrovessel, accompanied by a cilioretinal artery, crossing the macula and having three tributaries which are surrounding the foveal area (Figure 2c). SD-OCT (Heidelberg Engineering, Heidelberg, Germany) showed normal foveal contour and vessel shadowing at five points (Figure 2d).

Figure 2a

Case 2: fundus photograph at presentation showed retinal macrovessel was a branch of the superotemporal vein reaching up to the fovea with three tributaries accompanied by a cilioretinal artery

Figure 2b

Case 2: fundus autofluorescence at presentation

Figure 2c

Case 2: farly filling of the aberrant retinal macrovein was observed on fundus fluorescein angiography

Figure 2d

Case 2: spectral domain optical coherence tomography showing normal foveal contour and vascular shadowing at five points (arrows)

Case 3: A 16-year-old male patient was referred to us with a history of blurred vision in the left eye. His BCVA was 20/20 in the right eye and 20/25 in the left eye on Snellen chart. Relative afferent pupillary defects and anisocoria were not present. Intraocular pressures were within normal limits. Slit-lamp examinations of the anterior segments of both eyes were normal. On fundus examination of the left eye, an anomalous large vessel was seen passing through the fovea separated in the optic disc from the inferotemporal vein. The patient was evaluated with colored fundus photograph (Figure 3a), SD-OCT (Figure 3b), FFA (Figure 3c) and fundus autoflorescence (Figure 3d).

Figure 3a

Case 3: montage colored fundus image showing a congenital retinal macrovessel crossing the macula horizontally in the left eye and separating branches of the vein peripherally

Figure 3b

Case 3: spectral domain ocular coherence tomography at presentation in the left eye with horizontal section passing through the macrovessel

Figure 3c

Case 3: fundus fluorescein angiography at presentation showed late filling of macrovessel simultaneously with inferotemporal vein

Figure 3d

Case 3: left eye fundus autofluorescence image

Discussion

Congenital retinal macrovessel is a rare finding and is usually discovered incidentally. CRM are mesenchymal in origin and develop around the first weeks of the second trimester when differentiation of arteries and veins occurs.[6] They are generally asymptomatic, and vision is not affected in most cases. Archer et al.[7] classified congenital retinal arteriovenous communications into three groups. Group 1 arteriovenous communications are the mildest variant, and clinically, can be very subtle. Group 2 are larger than those of group 1. Our case 2 was compatible with group 1 and our cases 1 and 3 were compatible with group 2 of the Archer classification. To our knowledge, a congenital retinal venous macrovessel that communicates with a cilioretinal artery is very rare. This condition was first described by Beatty et al.[5] Most of the cases of CRM that have been documented to date exhibited normal visual acuity.[2] When macrovessel is associated with reduced vision, one of the rare conditions should be considered: foveal cyst, macular hemorrhage or serous detachment, macular ischemia, branch retinal artery occlusion, and Valsalva retinopathy.[8] For this reason, clinicians should be vigilant and follow these patients regularly.