Persistent fetal vasculature is a disorder of ocular development caused by the incomplete regression of fetal vasculature. The anterior form of persistent fetal vasculature is classically characterized by microphthalmia, a retrolental fibrovascular membrane, elongated ciliary processes, and a persistent hyaloid artery. Patients diagnosed as having persistent fetal vasculature may have variable phenotypic heterogenicity that includes ciliary body masses such as adenoma, medulloepithelioma, benign ciliary body cysts, coloboma, microcornea, and lens dislocation.1–9 We describe a child with a benign, multiloculated cystic ciliary body mass with lenticular coloboma in association with persistent fetal vasculature.
A 4-year-old boy was referred by his primary care provider for an unspecified cataract of the right eye. Uncorrected visual acuity was 20/100 in the right eye and 20/30 in the left eye. Slit-lamp bio-microscopy of a dilated right eye showed multiple elongated ciliary processes and multiple smooth ciliary body cysts nasally extending around the anterior lens from the 2-o'clock position to the 6-o'clock position. The elongated ciliary processes and cysts were tremulous on eye movements. The cysts appeared to arise from the ciliary body and were brown in color. The lens had an irregular nasal colobomatous margin through which sparse zonules and elongated cystic ciliary processes could be seen (Figures 1A–1B). A superonasal posterior polar cataract on the lens was noted with persistent posterior membrane attached retrolentally (Figures 1A and 1C). The left eye anterior and posterior segment examination was normal (Figure 1D).
(A) Slit- lamp photograph of the right eye shows a clear cornea, irregular colobomatous nasal lenticular edge extending from 2- to 7-o'clock positions, sparse zonules, elongated ciliary processes nasally, and posterior polar cataract with retrolental fibrovascular stalk. (The lower white reflex is an artifact.) (B) Slit-lamp photograph of the right eye shows elongated ciliary processes nasally with multiple large ciliary body cysts (red asterisk). In the periphery, localized cataract is seen. (C) Fundus photograph of right eye showing the fibrovascular stalk from the optic disc to the posterior surface of the lens with normal macula and posterior pole. (D) Fundus photograph of the left eye with normal disc, macula, and posterior pole.
An examination under anesthesia was performed with initial concerns for medulloepithelioma. On close external examination, the right eye was noted to be relatively smaller than the left eye. Corneal horizontal diameters were measured as 11 mm in the right eye and 12 mm in the left eye. Axial lengths via A-scan ultrasonography were 21.87 and 23.12 mm in the right and left eye, respectively (Figures 2A and 2C). The smaller corneal diameter and axial length confirmed microphthalmia of the right eye. Indirect ophthalmoscopy of the right eye revealed the persistent hyaloid artery stalk extending from the optic disc to the lenticular opacity, which was confirmed on B-scan as a hyperreflective stalk suggesting persistent fetal vasculature (Figure 1C and Figure 2A). High-frequency ultrasound biomicroscopy demonstrated multiple ciliary cysts behind the nasal iris between the 2- and 6-o'clock positions, with the colobomatous nasal edge of the lens (Figures 2B and 2D) The cycloplegic refraction was noted to be plano +1.50 × 90 in the right eye and +0.50 sphere in the left eye. This was suggestive of lenticular astigmatism of the right eye secondary to coloboma of the lens. Amblyopia treatment of the right eye and patching of the left eye was started for this patient. Lens removal and rehabilitation may be considered in the future.
Ultrasound B-scan of the right eye showing (A) a hyperreflective stalk extending from the optic disc to the posterior surface of the lens in the vitreous cavity and (B) multiple large ciliary body cysts nasally with subluxated lens temporally. Ultrasound B-scan of the left eye showing (C) acoustically clear vitreous cavity and attached retina and (D) normal anterior segment anatomy.
This is a unique case of persistent fetal vasculature with multiloculated ciliary cysts and lenticular coloboma along with typical findings of elongated ciliary processes, cataract, and microphthalmia.
Davidson5 reported rare spontaneous cysts of the ciliary body in two adult patients at presentation with no associated pathology or change in the appearance or size of the cysts. Both reported with excellent visual acuity of 6/5. The occurrence of ciliary body cysts in association with developmental eye pathologies has been reported by McCrea,6 Trevor-Roper,7 and Bonaccolto.8 McCrea6 reported a cystic condition of the pars plana associated with the absence of retina and choroid in an eye with light perception visual acuity. Trevor-Roper7 described an adult man who had 6/36 vision in the left eye with a ciliary body cyst along with a scalloped coloboma, sparse zonules in the affected area, a posterior cortical cataract, and a persistent hyaloid artery leading to the optic disc. Bonaccolto8 described a 6-year-old child diagnosed as having persistent fetal vasculature, a lenticular coloboma, and ciliary body cysts with counting fingers vision. Ciliary body cysts are common in normal patients with no pathology and have reportedly been detected in 54% of eyes via ultrasound biomicroscopy,10 but its association with persistent fetal vasculature has not been reported since Trevor-Roper7 and Bonaccolto's8 reports.
Vail and Merz11 suggested that ciliary body cysts are embryogenic in origin and may form from the traction of the zonule on the ciliary epithelium with consequent separation of the pigmented and non-pigmented layers of the ciliary epithelium causing an opening in this space. These asymptomatic cysts may enlarge over a period of time with constant traction of the zonules during accommodation. Bonaccolto8 suggested that the embryogenic development of ciliary body cysts interferes with normal lens development, leading to an irregular lenticular coloboma. Our findings support the theories proposed by Vail and Merz11 and Bonaccolto.8
There are few reported cases of ciliary body adenomas in conjunction with persistent fetal vasculature.1–3 Persistent fetal vasculature has been reported to also be present in 20% (11 of 56) of eyes with medulloepithelioma in a clinicopathologic study that evaluated patients whose ages ranged from 6 months to 41 years.4 Cysts within a tumor can be suggestive of medulloepithelioma and were present in 6 of 10 eyes in a study by Shields et al.12 In our patient, the clinical appearance and ultrasonographic biomicroscopy examination of the ciliary body was more consistent with non-solid, homogenous pigmented cysts.
This case is remarkable for several reasons. The anterior segment abnormalities are atypical for persistent fetal vasculature and make recognition of the posterior involvement more difficult. Because ciliary body tumors can be associated with persistent fetal vasculature, close monitoring is required even though surgical intervention is not indicated at this time.
This is a case of a child with persistent fetal vasculature associated with multiple benign ciliary body cysts and congenital lenticular coloboma leading to amblyopia, highlighting phenotypic heterogenicity in this condition. Angiogenesis and vascular remodeling is a basic process that is affected by a variety of events in organogenesis.13 Persistent fetal vasculature is therefore associated with a variety of congenital ocular abnormalities. This can result in challenges when classifying patients diagnosed as having persistent fetal vasculature.
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- Trevor-Roper PD. Cyst of the ciliary epithelium. Trans Ophthal Soc U K. 1948;68:282.
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- Takkar B, Chandra P, Kumar V, Agrawal R. A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. J AAPOS. 2016;20:180–182. doi:10.1016/j.jaapos.2015.12.004 [CrossRef]
- Kunimatsu S, Araie M, Ohara K, Hamada C. Ultrasound biomicroscopy of ciliary body cysts. Am J Ophthalmol. 1999;127:48–55. doi:10.1016/S0002-9394(98)00308-0 [CrossRef]
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