Introduction
Retinal arteriovenous malformation (RAM), also known as retinal racemose haemangioma
(RRH), is a congenital, non-hereditary, and sporadic vascular anomaly characterised
by the appearance of dilated and tortuous abnormal retinal vessels. When accompanied
by vascular malformations in the midbrain, mandible, or other parts of the body, it
is referred to as Wyburn-Masonʼs disease [1], [2], [3].
Although RAM is typically asymptomatic and stable, complications such as central retinal
vein occlusion, retinal ischaemia, and vitreous haemorrhage have been documented [4].
This report details a case of RAM complicated by central retinal vein occlusion and
secondary full-thickness macular hole (FTMH) with spontaneous closure during follow-up
of sixteen years.
Case Report
A 20-year-old female was referred to the ophthalmology department of the university
hospital presenting with visual loss in the right eye for the previous four weeks.
She reported no pain, redness, or photophobia. Her medical history included anaemia
diagnosed four months ago. Family history was unremarkable.
Best corrected visual acuity (BVCA) was 20/100 in the right eye and 20/20 in the left
eye. Intraocular pressure and anterior segment examination of both eyes were normal.
In the right eye, fundoscopy revealed papilledema, parapapillary flame-shaped haemorrhages,
tortuosity, and dilation of retinal veins, macular oedema, star-shaped lipid exudation
in the fovea and peripheral dot-blot haemorrhages. A vascular anomalous complex was
seen in the nasal periphery. Fundus was observed to be normal in the left eye. Fundus
fluorescein angiography of the right eye demonstrated hyperfluorescence in the peripapillary
region and an abnormally dilated tortuous retinal vascular complex in the superonasal
midperiphery ([Fig. 1 a] and [b]).
Fig. 1 a Panoramic colour fundus image of the right eye at first presentation shows papilledema,
parapapillary haemorrhages, tortuosity of retinal veins, macular oedema, star-shaped
lipid exudates in the fovea and punctate haemorrhages in the periphery consistent
with central retinal vein occlusion. In the nasal periphery, a retinal arteriovenous
malformation complex is seen. b Fundus fluorescein angiography of the right eye at first presentation shows peripapillary
hyperfluorescence and an abnormally dilated tortuous retinal vascular complex in the
nasal midperiphery.
Dermatological, internal, and neurological investigations including magnetic resonance
imaging of the cranium and the orbital cavity did not reveal any abnormalities. The
patient was diagnosed with central retinal vein occlusion and unilateral congenital
RAM of the right eye.
Macular oedema regressed following four intravitreal applications of 1,25 mg Bevacizumab.
The time-domain optical coherence tomography (OCT) examination four months after the
first presentation revealed a full-thickness macular hole (FTMH) with intra- and subretinal
fluid at the macula ([Fig. 2]). The BCVA was decreased to 20/200. The patient was explicitly informed about the
therapeutic option of a macular surgery to treat the FTMH, but denied the surgery.
Following the first phase of care in our clinic, the patient gave birth to a child
and decided to be cared for by the ophthalmologist close to home for a period of 3
years. Within this period, she received a sectorial laser photocoagulation. In the
next follow-up visit three years later, the OCT examination of the right eye revealed
a spontaneous closure of the FTMH with a lamellar macular hole formation and an epiretinal
membrane ([Fig. 3]). At the final examination,
16 years after the initial presentation, the right eye exhibited macular exudation,
papillary collaterals, retinal vein tortuosity, ghost vessels in the temporal inferior
quadrant, laser scars in the inferior quadrants of the fundus and RAM complex with
a similar appearance to that observed on the initial examination. The OCT examination
revealed a lamellar macular hole, intraretinal cystoid changes, and an ERM ([Fig. 4 a] and [b]). Her BCVA improved slightly to 20/100.
Fig. 2 Horizontal OCT scan through the fovea of the right eye four months after the initial
presentation shows FTHM and large serous detachment of the macula.
Fig. 3 Horizontal OCT scan through the fovea of the right eye nearly four years after the
first presentation shows a lamellar macular hole, parafoveal intraretinal cystoid
changes and an intraretinal hyperreflective structure nasal to the fovea.
Fig. 4 a Panoramic colour fundus image of the right eye at the final examination shows papillary
venous collaterals, tortuosity and dilation of the retinal veins, exudation in the
macula, ghost vessels in the temporal inferior quadrant, laser scars in the inferior
quadrants of the fundus and RAM complex with a similar appearance to that observed
on the initial examination. b Horizontal OCT scan through the fovea of the right eye at the final examination shows
a persistent lamellar macular hole, a parafoveal intraretinal hyperreflective structure,
intraretinal cystoid cavities, and an epiretinal membrane.
Discussion
Retinal arteriovenous malformation is a rare entity. While the majority of cases are
asymptomatic, it can potentially lead to visual loss when complications such as retinal
vein occlusion occur. The formation of a macular hole in a RAM case was observed once
by Muñoz et al. (1991) without any change at six-year follow-up [5].
The present case had some atypical clinical features. Even though there was clinical
visible macular oedema, the late phase of the fluorescein angiography did not show
any apparent leakage in the macula. Therefore, a coexistence of a temporary retinal
arterial occlusion with reperfusion cannot be excluded, which could have contributed
to the macular thickening by intracellular oedema.
It has been reported that macular oedema and intravitreal pharmacotherapy may be involved
in the formation of a FTMH. In such eyes, rapid reduction of oedema after intravitreal
pharmacotherapy, foveal ischaemia, and cystoid degenerations have been considered
as a contributing factor in the pathogenesis of the FTMH [6], [7].
In this report, we have described a case of RAM presenting with central retinal vein
occlusion and with FTMH development, which closed spontaneously during the follow-up.
No vitreous traction was observed. Spontaneous FTMH closure has been documented in
various studies. The presence of parafoveal cystoid changes has been identified as
a positive predictive feature for hole closure. In such cases, if medical treatment
is still ongoing, it is advised to consider a follow-up period before deciding a surgical
intervention [8].
FTMH is a very rare complication in cases of RAM. To the best of our knowledge, this
case report is the first presentation of a spontaneously closed FTMH in a RAM patient
with long-term follow-up of sixteen years.
