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Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 353-355

Surgery for invasive corneal neoplasia in xeroderma pigmentosum – Optimizing outcomes

Department of Cornea and Refractive Surgery, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India

Date of Submission21-May-2021
Date of Acceptance09-Sep-2021
Date of Web Publication13-Apr-2022

Correspondence Address:
Rama Rajagopal
Medical Research Foundation, Sankara Nethralaya, 18 College Road, Chennai, Tamil Nadu - 600 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1320_21

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Nodular corneal invasion in xeroderma pigmentosum is rare. The depth of clinical involvement can be deceptive. Anterior segment optical coherence tomography/ultrasound biomicroscopy can aid in surgical planning. We reviewed the clinical features, surgical details and long-term outcomes of three patients who underwent superficial keratectomy, lamellar keratoplasty, and penetrating keratoplasty for invasive corneal neoplasia. The histopathology revealed squamous cell carcinoma in all three eyes. No recurrence was noted over a minimum follow-up of 4 years. Early surgery is recommended in view of the risk of deeper penetration. Besides surgery, options include plaque therapy. Comorbid conditions are best addressed sequentially, and long-term follow-up is mandatory.

Keywords: Excision biopsy, invasive corneal neoplasia, squamous cell carcinoma, xeroderma pigmentosum

How to cite this article:
Rajagopal R, Iyer G, Srinivasan B, Pandey S, Subramanian K. Surgery for invasive corneal neoplasia in xeroderma pigmentosum – Optimizing outcomes. Indian J Ophthalmol Case Rep 2022;2:353-5

How to cite this URL:
Rajagopal R, Iyer G, Srinivasan B, Pandey S, Subramanian K. Surgery for invasive corneal neoplasia in xeroderma pigmentosum – Optimizing outcomes. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 May 24];2:353-5. Available from: https://www.ijoreports.in/text.asp?2022/2/2/353/342879

Xeroderma pigmentosum (XP) is a rare genetic autosomal recessive disorder that occurs due to deficiency of enzyme required for DNA (deoxyribonucleic acid) repair following ultraviolet light damage.[1] The resultant somatic mutations lead to an increased risk of developing tumors at a younger age.[1],[2] Ocular surface squamous neoplasia (OSSN) and corneal scarring are the two most common ocular findings in XP.[3] Among the tumors, squamous cell carcinoma (SCC) is the commonest.

Corneal involvement in OSSN is rare and is usually limited to the Bowman's layer.[4] However, in XP, nodular tumors can penetrate deeper. To the best of our knowledge, this is the first case series of three patients with XP presenting with nodular corneal lesions of varied depths, who underwent superficial keratectomy, lamellar keratoplasty (LK), and penetrating keratoplasty (PK), histopathologically proven to be SCC with successful long-term outcomes.

  Case Series Top

This was a single-center retrospective interventional clinical study of three cases of XP with corneal OSSN with a minimum follow-up of 4 years following excision. The study adhered to the tenets of the Declaration of Helsinki and was approved by the institutional review board. Informed consent was obtained. Systemic examination was unremarkable. All patients had nodular corneal involvement along with feeder vessels. There was spotty Rose Bengal staining with no surface keratinization in all the patients. Surgery was done using the no-touch technique with a 3-mm conjunctival margin clearance and cryotherapy to the resected conjunctival edge. The histopathology revealed a well-differentiated SCC in all patients. All patients received postoperative steroids with lubricants. The details of individual corneal surgeries are described below.

Case 1

A 39-year-old male presented with a pigmented, fixed nodular mass measuring 6 × 3 mm in the inferonasal quadrant of the cornea involving 4 clock hours in the right eye since 2 years. Preoperative ultrasound biomicroscopy (UBM) was suggestive of epithelial involvement [Figure 1]a and [Figure 1]b. Alcohol epitheliectomy was performed 2 mm anterior to the lesion on the corneal side. The lesion was dissected off the underlying cornea with a 3-mm conjunctival margin clearance. Cryotherapy was done to the base after obtaining base clearance. Amniotic membrane graft (AMG) was secured. At 4 years follow-up, there was minimal scarring with no recurrence [Figure 1]c. The other eye was normal.
Figure 1: (a) Clinical photograph showing a nodular pigmented mass lesion of the right eye measuring 6 × 3 mm in the inferonasal quadrant. (b) Ultrasound biomicroscopy image suggestive of superficial corneal involvement. (c) No recurrence at 4 years

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Case 2

A 35-year-old male presented with a nodular mass measuring 6 × 4 mm involving 4 clock hours of the inferior cornea of the left eye since 5 months [Figure 2]a. UBM was suggestive of partial corneal stromal involvement. Corneal dissection was initiated 2 mm ahead of the lesion. On lamellar dissection, the mass was noted to be involving about 40% stromal depth. Further dissection of about 20% depth was carried out. Base and conjunctival margin clearance of 3 mm was confirmed by frozen section examination. A lamellar corneal graft, measuring 6.5 mm was sutured. AMG was secured. Vascularization of the interface led to subsequent graft failure [Figure 2]b and [Figure 2]c. The patient is awaiting optical keratoplasty. There was no recurrence in 4 years. The other eye had a vascularized corneal opacity following healed keratitis.
Figure 2: (a) Clinical photograph showing a nodular growth in the left eye measuring 6 × 4 mm in the inferior cornea. (b) Postoperative photograph after lamellar keratoplasty with graft haze. (c) Histopathology showing invasive squamous cell carcinoma

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Case 3

A 34-year-old single-eyed patient presented with a nodular growth measuring 5 × 7 mm involving 5 clock hours of the inferior quadrant in the right eye since 10 months [Figure 3]a. The left eye had features of total limbal stem cell deficiency with poor vision since two decades. Anterior segment optical coherence tomography (ASOCT) was suggestive of a full-thickness corneal invasion [Figure 3]b. Cornea was trephined 2 mm beyond the lesion with a 9-mm trephine. Intraoperatively, the mass was involving the Descemet's membrane. A point peripheral anterior synechiae was noted inferiorly, indicative of a preexisting microperforation by the tumor. PK with 9.5-mm corneal graft was done. The total cataract noted intraoperatively was left undisturbed. The patient underwent extracapsular cataract surgery with intraocular lens implantation 9 months later. At 5 years, post PK, the best-corrected visual acuity improved from light perception preoperatively to 20/60. The graft had mild paracentral scarring with no recurrence [Figure 3]c.
Figure 3: (a) Clinical photograph showing a nodular growth in the right eye measuring 5 × 7 mm in the inferior cornea. (b) Anterior segment optical coherence tomography image suggestive of full-thickness invasion. (c) No recurrence at 5 years

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  Discussion Top

Corneal OSSN is relatively rare and usually presents as a greyish white flat lesion with fimbriated edges,[5] often limited to the epithelium. Further invasion is limited by the resilient Bowman's layer.

Corneal invation has been described following inadvertent seeding from the conjunctiva.[6],[7],[8] In our case, the conjunctiva was uninvolved both clinically and histopathologically. Vertical penetration into deeper corneal layers in XP, as in our patients is facilitated by the fragmentation of Bowman's layer described in XP.[9] In nodular OSSN, surgery remains the preferred choice. ASOCT or UBM is recommended for accurate surgical planning.

Lesions are usually superficial as in Case 1, and the tumor can be peeled off the surface by superficial keratectomy. If the lesion involves less than superficial one third of the stroma, excision with base clearance can be considered. For stromal invasions beyond this as in Case 2, excision with or followed by plaque is recommended.[10],[11] The limitations of plaque therapy include logistics. In our case, LK was considered taking care to dissect beyond clinical evidence of invasion with base clearance. The risk of intraocular invasion in LK is less compared with PK, but early recurrences may be missed especially in opaque grafts and hence is not preferred in invasive corneal lesions, especially in XP. In deeper corneal invasions, PK remains the choice as in Case 3. Intraocular procedures such as cataract surgery are best deferred for at least 6 months following surface procedures to minimize the risks of intraocular seeding.

  Conclusion Top

Surgery is the treatment of choice in nodular corneal OSSN in XP. ASOCT/UBM aids in surgical planning. Excision combined with plaque is recommended in partial stromal invasions beyond superficial one third and PK if the invasion is deeper. The role of LK is limited in XP in view of the higher risk of tumor penetration. Besides aggressive conjunctival tumors such as spindle-cell carcinoma and mucoepidermoid carcinoma described earlier causing contiguous spread in non-XP patients, our series highlights that corneal SCC can also be locally invasive in XP patients and discusses an algorithmic approach to optimize the results.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Kraemer KH, Digiovanna JJ. Forty years of research on xeroderma pigmentosum at the US National Institutes of Health. Photochem Photobiol 2015;91:452-9.  Back to cited text no. 1
Goyal JL, Rao VA, Srinivasan R, Agrawal K. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994;78:295-7.  Back to cited text no. 2
Kalamkar C, Radke N, Mukherjee A, Radke S. Xeroderma pigmentosum with bilateral ocular surface squamous neoplasia and review of the literature. BMJ Case Rep 2016;10:bcr2016215364.  Back to cited text no. 3
Lee GA, Hirst LW. Ocular surface squamous neoplasia. Surv Ophthalmol 1995;39:429-50.  Back to cited text no. 4
Gupta N, Sachdev R, Tandon R. Ocular surface squamous neoplasia in xeroderma pigmentosum: Clinical spectrum and outcome. Graefes Arch Clin Exp Ophthalmol 2011;249:1217-21.  Back to cited text no. 5
Balestrazzi A, Martone G, Pichierri P, Tosi GM, Caporossi A. Corneal invasion of ocular surface squamous neoplasia after clear corneal phacoemulsification: In vivo confocal microscopy analysis. J Cataract Refract Surg 2008;34:1038-43.  Back to cited text no. 6
Murillo JC, Galor A, Wu MC, Kye NK, Wong J, Ahmed IO. Intracorneal and intraocular invasion of ocular surface squamous neoplasia after intraocular surgery: Report of two cases and review of the literature. Ocul Oncol Pathol 2017;3:66-72.  Back to cited text no. 7
Shields JA, Eagle RC, Marr BP, Shields CL, Grossniklaus HE, Stulting RD. Invasive spindle cell carcinoma of the conjunctiva managed by full-thickness eye wall resection. Cornea 2007;26:1014-6.  Back to cited text no. 8
Chaurasia S, Mulay K, Ramappa M, Sangwan V, Murthy S, Nair R, et al. Corneal changes in xeroderma pigmentosum: A clinicopathologic report. Am J Ophthalmol 2014;157:495-500.  Back to cited text no. 9
Walsh-Conway N, Conway RM. Plaque brachytherapy for the management of ocular surface malignancies with corneoscleral invasion. Clin Exp Ophthalmol 2009;37:577-83.  Back to cited text no. 10
Mendoza PR, Craven CM, Ip MH, Wilson MW, Coroneo MT, Grossniklaus HE. Conjunctival squamous cell carcinoma with corneal stromal invasion in presumed pterygia: A case series. Ocul Oncol Pathol 2018;4:240-9.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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