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OPHTHALMIC IMAGES
Year : 2018  |  Volume : 66  |  Issue : 3  |  Page : 449

Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2


1 Department of Ophthalmology, Royal Victoria Hospital, Belfast BT12 6BA, UK
2 Department of Eye, Birmingham Children's Hospital, Birmingham B4 6NH, UK

Date of Web Publication26-Feb-2018

Correspondence Address:
Dr. Ajay Anand Mohite
Department of Ophthalmology, Royal Victoria Hospital, 274 Grosvenor Rd, Belfast BT12 6BA
UK
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_820_17

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How to cite this article:
Mohite AA, Abbott J. Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2. Indian J Ophthalmol 2018;66:449

How to cite this URL:
Mohite AA, Abbott J. Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2. Indian J Ophthalmol [serial online] 2018 [cited 2024 Mar 28];66:449. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2018/66/3/449/226110



A 6-month-old girl was referred to ophthalmology with nonresolving epiphora, hyperemia, and photophobia reported since birth. Examination under anesthesia revealed normal intraocular pressures. Grossly symmetrical pseudodendritic subepithelial corneal opacities were noted bilaterally [Figure 1]a. Corneal scrapes and conjunctival swabs ruled out infection. Bilateral alcohol delamination provided temporary symptom relief. Three months later, punctate hyperkeratotic patches were noted on both hands and feet [Figure 1]b, prompting a clinical diagnosis of tyrosinemia type 2. Blood tests confirmed raised tyrosine levels (1941 umol/l) due to an error of tyrosine metabolism, causing crystal deposition and subsequent characteristic oculocutaneous signs. Forty-eight hours after commencing a low-protein diet with tyrosine/phenylalanine substitution, symptoms resolved entirely.
Figure 1: (a) Pseudodentritic lesions, (b) punctate hyperkeratotic patches

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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.

Acknowledgement

We acknowledge Mr. JR Ainsworth who made the clinical diagnosis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.




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