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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 385-387

Management of progressive keratoconus in a patient with xeroderma pigmentosum after treatment of ocular surface tumors


Department of Ophthalmology and Visual Sciences, Paulista School of Medicine, São Paulo Hospital, Federal University of São Paulo, Brazil

Date of Submission11-Aug-2021
Date of Acceptance03-Nov-2021
Date of Web Publication13-Apr-2022

Correspondence Address:
Julia J Carvalho
St. Loefgren, 1654 - Vila Clementino, Sao Paulo
Brazil
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2084_21

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  Abstract 


We report a 16-year-old female patient with diagnosis of xeroderma pigmentosum (XP), previously treated for simultaneous conjunctival squamous cell carcinoma in the right eye (OD) and conjunctival melanoma in the left eye (OS), showing progressive keratoconus during follow-up. Considering the risk of cross-linking treatment due to UV exposure in XP patients, an intrastromal corneal ring segment was implanted in the right eye. The patient was fitted with mini-scleral lenses that would promote corneal lubrication and provide the patient with better visual acuity than glasses. The patient has been followed-up for 1 year with no tumor recurrence and good vision.

Keywords: Eye neoplasms, genetics, keratoconus, xeroderma pigmentosum


How to cite this article:
Carvalho JJ, Marcos AA, Morales MC, Belfort RN, de Freitas D, Santos MS. Management of progressive keratoconus in a patient with xeroderma pigmentosum after treatment of ocular surface tumors. Indian J Ophthalmol Case Rep 2022;2:385-7

How to cite this URL:
Carvalho JJ, Marcos AA, Morales MC, Belfort RN, de Freitas D, Santos MS. Management of progressive keratoconus in a patient with xeroderma pigmentosum after treatment of ocular surface tumors. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 May 27];2:385-7. Available from: https://www.ijoreports.in/text.asp?2022/2/2/385/342924



Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by hypersensitivity to sunlight resulting in photoaging and photocarcinogenesis with ocular manifestations described in 40–100% of patients.[1],[2] The major corneal damages are scarring, neovascularization, pannus, and tumors.[1–4]

Herein, we report a 16-year-old female patient with a previous diagnosis of XP treated for simultaneous conjunctival squamous cell carcinoma in the right eye (OD) and conjunctival melanoma in the left eye (OS), showing progressive keratoconus during follow-up. To the best of our knowledge, this is the first case of keratoconus treated with intrastromal corneal ring segment (ICRS) implantation in a patient with XP after treatment of ocular surface neoplasia.


  Case Report Top


A 16-year-old female patient with a diagnosis of XP, previously treated for simultaneous conjunctival squamous cell carcinoma in the right eye (OD) and conjunctival melanoma in the left eye (OS)[5] and after 2 years without relapse of the neoplasias, presented with progressive vision loss in both eyes. Best-corrected visual acuity (BCVA) was 20/400 in the OD and 20/60 in the OS. Corneal tomography measurements showed Kmax of 73.3 and thinnest pachymetry of 430 μm in the OD, and Kmax of 62.2 and thinnest pachymetry of 422 μm in the OS. After 1 year of follow-up keratoconus progression was observed in the OD showing Kmax 75.7 and thinnest pachymetry of 401 μm; and Kmax of 61.8 and thinnest pachymetry of 420 μm in the OS [Figure 1].
Figure 1: Preoperative corneal tomography measurements of the right eye in the four refractive maps

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A potential acuity meter test using a contact lens revealed a visual acuity (VA) of 20/60 in the OD and implantation of a long-arc ICRS was indicated. The procedure was performed with a model SI-5 (5 mm OZ), arc width of 330°, and asymmetric thickness of 200–300 μm [Figure 2]. [Figure 3] shows the postoperative corneal tomographic measurements. After the procedure, VA was 20/60. A miniscleral contact lens was fitted in the OD, with a BCVA of 20/40. The patient was treated with topical interferon alpha 2b (1.000.000 IU/mL QID) for tumor prophylaxis.
Figure 2: Postoperative biomicroscopy of long-arc ICRS implantation

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Figure 3: OD—Postoperative corneal tomography measurements of the right eye after ICRS implantation in the four refractive maps

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Within 1 year of follow-up, the patient did not show keratoconus progression, as observed in the corneal tomography measurements, which indicated Kmax of 66.0 D and thinnest pachymetry of 423 μm in the OD.


  Discussion Top


Early blindness is a common problem in patients with XP. Alfawaz et al.[3] reported that the incidence of visual impairment increases over time and demonstrated that 55% of patients had severe visual impairment at the last medical visit.

The prevalence of keratoconus in XP is unknown. In our unpublished study with 41 XP patients during a 24-month follow-up period, two patients presented with keratoconus: an 8-year-old boy and the 16-year-old female patient reported here. To the best of our knowledge, there is only one published case report of keratoconus in XP, which describes two patients, one of them being treated with corneal transplantation.[6]

Keratoconus patients with documented progression and low VA may be treated with several procedures to improve VA and to slow keratoconus progression. Crosslinking is considered a good option for halting disease progression; however, this technique raises concerns about XP patients as it uses ultraviolet light. Notably, XP patients show deficiencies in ultraviolet-induced DNA damage repair, which increases the risk of malignancies.

Corneal transplantation–either penetrating keratoplasty or deep anterior lamellar keratoplasty (DALK)—would be options to treat advanced keratoconus in XP patients,[7] but we decided to rehabilitate the patient using a corneal ring and contact lenses.


  Conclusion Top


This was a report of a progressive keratoconus and low VA in an XP patient, successfully treated with ICRS implantation and miniscleral contact lenses. The treatment of keratoconus in this group of patients may be challenging given the compromised ocular surface.

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Lim R, Sethi M, Morley AMS. Ophthalmic manifestations of xeroderma pigmentosum: A perspective from the United Kingdom. Ophthalmology 2017;124:1652-61.  Back to cited text no. 1
    
2.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, et al. Ocular manifestations of xeroderma pigmentosum: Long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013;120:1324-36.  Back to cited text no. 2
    
3.
Alfawaz AM, Al-Hussain HM. Ocular manifestations of xeroderma pigmentosum at a tertiary eye care center in Saudi Arabia. Ophthal Plast Reconstr Surg 2011;27:401-4.  Back to cited text no. 3
    
4.
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.  Back to cited text no. 4
    
5.
Caso ER, Marcos AA, Morales M, Belfort RN. Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report. Indian J Ophthalmol 2019;67:1190-2.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Blanksma LJ, Donders PC, van Voorst Vader PC. Xeroderma pigmentosum and keratoconus. Doc Ophthalmol 1986;64:97-103.  Back to cited text no. 6
    
7.
Jalali S, Boghani S, Vemuganti GK, Ratnakar KS, Rao GN. Penetrating keratoplasty in xeroderma pigmentosum. Case reports and review of the literature. Cornea 1994;13:527-33.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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