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BRIEF COMMUNICATION
Year : 2020  |  Volume : 8  |  Issue : 2  |  Page : 75-77

Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report


1 Department of Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
2 Department of Ocular Pathology, Uveitis and Neuro-Ophthalmology, Guwahati, Assam, India
3 Department of Oculoplasty, Cataract and Refractive Surgery, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
4 Department of Vitreo-Retina, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
5 Physician, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
6 Department of Ocular pathology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India

Date of Submission13-Sep-2019
Date of Decision27-Nov-2019
Date of Acceptance27-Nov-2019
Date of Web Publication2-Jul-2020

Correspondence Address:
Palak Chirania
Sri Sankaradeva Nethralaya, Guwahati, Assam
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcor.jcor_76_19

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  Abstract 


Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-ophthalmos, microcornea, inferior iris coloboma with suspected retinochoroidal coloboma in right eye (OD). Ultrasound B scan of OD was done which confirmed the above findings along with the presence of membranous echoes attached to the disc. On MRI of right orbit, retinal detachment with colobomatous cyst in the posterior aspect of the eyeball was present. OD was enucleated with parenteral consent and silicon ball and socket reconstruction was done. We thereafter examined the enucleated eyeball grossly as well as by histopathological examination. Herein, we present the pathological features of a case of persistent fetal vasculature (PFV) supported by gross and microscopic examination with a special emphasis on the presence of colobomatous cystic optic disc in a micro-ophthalmic eye. Conclusion: This is one of the rare associations of PFV making this original report a unique one.

Keywords: Colobomatous cystic optic disc, microcornea, microphthalmos, persistent fetal vasculature


How to cite this article:
Chirania P, Das D, Bhattacharjee K, Barman MJ, Bharali G, Deka P, Deka A. Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report. J Clin Ophthalmol Res 2020;8:75-7

How to cite this URL:
Chirania P, Das D, Bhattacharjee K, Barman MJ, Bharali G, Deka P, Deka A. Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report. J Clin Ophthalmol Res [serial online] 2020 [cited 2020 Nov 29];8:75-7. Available from: https://www.jcor.in/text.asp?2020/8/2/75/288851




  Introduction Top


Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a congenital anomaly caused due to failure of the embryonic vascular system to regress partly or fully.[1],[2],[3] It can be anterior or posterior.[1],[2] Anterior PFV presents as leukocoria with microphthalmos, shallow anterior chamber, cataractous lens, elongated ciliary processes, and a retrolental fibrovascular membrane.[2] Posterior PFV presents with microcornea, normal anterior chamber and ciliary processes, clear lens with vitreous membranes, and stalk containing hyaloid artery remnants.[2] It is rarely associated with optic nerve cyst.[2],[3],[4],[5] We present fully documented case of PFV and colobomatous optic disc in a young boy. Grossly, the examination of choroid–retinal pigment epithelium (RPE)-retinal tissue showed reactive RPE hyperplasia in the peripapillary areas. There were additional intraocular calcifications. The cut end of the optic nerve showed the cyst with atrophied optic nerve and central vessel.


  Case Report Top


An 8-year-old male patient presented to the outpatient department with custom-made prosthesis in the right eye (R/E) for 1 year. On examination, the best-corrected visual acuity in oculus dexter was no perception of light and the left eye was 20/20, N6. At that time, socket reconstruction with dermis graft, fornix suture, and amniotic membrane graft along with conformer was given in the R/E. He was a diagnosed case of microphthalmos, microcornea, and inferior iris coloboma with suspected retinochoroidal coloboma in the R/E on the basis of his previous records. On ultrasound B-scan, small eyeball, optic nerve head coloboma with membranous echoes attached to the disc suspected of retinal detachment and PFV was noted [Figure 1]. Posterior staphylomas were ruled out. On magnetic resonance imaging (MRI) of the right orbit, retinal detachment with hyaloid canal and vessels was seen along with a colobomatous cyst in the posterior aspect of the eyeball. No obvious mass was noted on the MRI scan. Fillers were given in R/E under general anesthesia. R/E was enucleated with a silicon ball with socket reconstruction.
Figure 1: Ultrasound B.scan of oculus dexter showing membranous echoes attached to the disc suspected of retinal detachment or persistent fetal vasculature was noted

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On gross examination, enucleated eyeball measured 19.20 mm anteroposteriorly, 18.13 mm horizontally, and 16.34 mm vertically. The cornea measured 8.88 mm horizontally and 7.77 mm vertically. The pupil was not seen. The optic nerve was 10.36-mm long and 6.18-mm thick. A cyst was present in the optic nerve which got deflated after incising the optic nerve with a blade. The cyst had a clear fluid. A whitish fibrous plaque was seen from the lens to the colobomatous optic nerve on sectioning the eyeball vertically [Figure 2]. RPE hyperplasia was noted in the peripapillary area.
Figure 2: Gross picture showing optic nerve cyst (a) and a vertically sectioned eyeball (b) with a whitish fibrous plaque extending from the lens in front to the optic disc behind suggestive of persistent fetal vasculature

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Microscopic examination of the enucleated eyeball showed irregular corneal epithelium with neovascularization. Other corneal layers were normal. Anterior segment findings showed deep anterior chamber with blunted iris and elongated ciliary process [Figure 3]a. Morgagnian globules were observed in the lens [Figure 3]b. The anterior phase of the vitreous showed calcification. There was fibrovascular tissue extending from the posterior surface of the lens to the colobomatous optic disc [Figure 3]c. Histologically, fibrovascular tissue contained hyperplastic retinal tissue with few persistent vessels were observed. Intraretinal gliosis, calcifications, and retinal detachment were noted [Figure 3]d. The outer wall of the optic nerve was lined by fibrocollagenous tissue and inner wall by glial tissues. The cut end of the optic nerve showed a cyst which had outer fibrocollagenous lining and inner glial tissue proliferation. The central part of the cyst showed remnant of the atrophied optic nerve with central vein [Figure 4]. Calcification was also present near the atrophied optic nerve [Figure 5].
Figure 3: Histopathologic picture elongated ciliary process (a), morgagnian globules in the lens (b), fibrovascular connective tissue (c) and calcification in the fibroblastic connective tissue (d)

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Figure 4: Microscopic picture of the optic nerve cyst showing atrophied optic nerve with the central vein in H and E-stained slide under low (×10) magnification

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Figure 5: Microscopic picture showing the presence of calcification at the edge of the optic nerve in H and E-stained slide

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  Discussion Top


During the development of vitreous, the main role of primary vitreous is to provide nutrition for the developing eye and the retina. During the development of secondary vitreous, primary vitreous eventually turns into Cloquet's canal.[1] At the same time, hyaloid vasculature, including the Bergmeister papilla, begins to atrophy.[1] The least common among the variations around the optic nerve head is the cyst of the posterior vitreous.[1] These vitreous cysts are thought to be remnants of the hyaloid vascular system. The embryonic vascular system in eyes may fully or partly fail to regress and may remain in the adult eye.[1],[2],[3] Failure of the normal regression of the primary vitreous body and hyaloid vasculature results in PFV.[2] PFV may be anterior or posterior. The characteristic presence of retrolental white plaque of the fibrovascular tissue is anterior PFV known as Mittendorf dot, whereas the malformations involving the congenital retinal fold are termed as posterior PFV.[2] The association of PHPV with colobomatous optic nerve cyst is also a rare association.[2],[3],[4],[5]

Colobomatous cyst is a congenital lesion that occurs besides the microphthalmic eye containing the coloboma.[4] It protrudes through a coloboma in the wall of a microphthalmic eye. Colobomatous cyst in a microphthalmic eye can be unilateral or bilateral and is present at birth.[4]

It has no sex predilection.[6] Majority of the cases are sporadic, but familial have also been reported.[6] It can be easily diagnosed as malignancy because of its rarity and unusual microscopic features.[6]

Our case presented to us at the age of 8 years with microphthalmos and optic nerve cyst which was confirmed radiologically. The constellation of clinical picture, radiological, and histopathological findings confirms the diagnosis of PFV with a colobomatous cyst. This rare case proves a diagnostic challenge to the ophthalmologist and the pathologist to have multiple pathologies.[6]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understand that his name and initial will not be published, and due efforts will be made to conceal their identity.

Acknowledgments

The authors would like to thank Sri Kanchi health and education foundation, Sri Sankaradeva Nethralaya, Guwahati, Assam, India.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Feman SS, Straatsma BR. Cyst of the posterior vitreous. Arch Ophthalmol 1974;91:328-9.  Back to cited text no. 1
    
2.
Pruett RC, Schepens CL. Posterior hyperplastic primary vitreous. Am J Ophthalmol 1970;69:534-43.  Back to cited text no. 2
    
3.
Font RL, Yanoff M, Zimmerman LE. Intraocular adipose tissue and persistent hyperplastic primary vitreous. Arch Ophthalmol 1969;82:43-50.  Back to cited text no. 3
    
4.
Shields JA, Shields CL. Orbital cysts of childhood-classification, clinical features, and management. Surv Ophthalmol 2004;49:281-99.  Back to cited text no. 4
    
5.
Duvall J, Miller SL, Cheatle E, Tso MO. Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies. Am J Ophthalmol 1987;103:701-5.  Back to cited text no. 5
    
6.
Al-Khamiss A, Ayoubi A. Colobomatous cyst: Histopathological characterization. J Case Rep Images Pathol 2015;1:12-6.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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