Unusual case of corneo-scleral melt treated with scleral patch graft in a patient of Porphyria Cutanea Tarda

Sweety G Tiple; Umang Mathur; Sima Das; Arpan Gandhi

doi:10.4103/ijo.IJO_1516_20

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CASE REPORT

Year : 2021 | Volume : 1 | Issue : 1 | Page : 95-97

Unusual case of corneo-scleral melt treated with scleral patch graft in a patient of Porphyria Cutanea Tarda

Sweety G Tiple¹, Umang Mathur², Sima Das¹, Arpan Gandhi³
¹ Department of Oculoplasty, Dr Shroff's Charity Eye Hospital, New Delhi, India
² Department of Cornea and Refractive Surgery, Dr Shroff's Charity Eye Hospital, New Delhi, India
³ Department of Ocular Pathology and Laboratory Services, Dr Shroff's Charity Eye Hospital, New Delhi, India

Date of Submission	06-Jun-2020
Date of Acceptance	03-Sep-2020
Date of Web Publication	31-Dec-2020

Correspondence Address:
Dr. Sweety G Tiple
Flat Number 1504, Tower 21, Lotus Boulevard, Sector 100, Noida - 201 304, Uttar Pradesh
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1516_20

Abstract

Porphyria cutanea tarda (PCT) is the most common form of Porphyria, which is a group of metabolic disorders of haem biosynthesis characterized by the involvement of the skin, eyes, and neuro-visceral tissue. Although scleral thinning in the interpalpebral area is a well-documented feature, severe corneal involvement is rarely described. We, herein report a young male who presented with bilateral scleral thinning in the interpalpebral area and an anterior staphyloma in the right eye. Systemic examination was suggestive of PCT. We report the first case of PCT in literature successfully treated with autologous scleral patch graft.

Keywords: Corneal perforation, ocular manifestations, porphyria cutanea tarda, scleral patch graft, staphyloma

How to cite this article:
Tiple SG, Mathur U, Das S, Gandhi A. Unusual case of corneo-scleral melt treated with scleral patch graft in a patient of Porphyria Cutanea Tarda. Indian J Ophthalmol Case Rep 2021;1:95-7

How to cite this URL:
Tiple SG, Mathur U, Das S, Gandhi A. Unusual case of corneo-scleral melt treated with scleral patch graft in a patient of Porphyria Cutanea Tarda. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Feb 26];1:95-7. Available from: https://www.ijoreports.in/text.asp?2021/1/1/95/305488

Porphyrias are a group of rare metabolic disorders characterized by the accumulation of photosensitive, toxic intermediates of haem metabolism in various organs including the skin, eye, and neural tissue.^[1] Porphyria cutanea tarda (PCT), the most common variant, may be genetic or sporadic in origin.^[2],[3] It is caused by the interaction between environmental, infectious, and genetic factor leading to uroporphyrinogen decarboxylase (UROD) enzyme deficiency. Environmental risk factors, which may worsen its manifestations in sporadic cases include alcohol, smoking, estrogen, viral infections (mainly Hepatitis C), etc.^[1],[3] S Bilaterally symmetric scleral involvement with minimal or no surrounding inflammation is a commonly described sign.^{[4],[5],[6],[7],[8],[9]} Very few reports exist on severe corneal involvement leading to scaring and loss of vision.^{[5],[6],[7],[8],[9]} We report, a patient of PCT who presented with severe corneal involvement in one eye and scleral melt in both eyes. The scleral melt was successfully treated with allogenic scleral patch graft.

Case Report

A 32-year-old farmer, a chronic alcoholic, presented with blurring of vision in his right eye since 7 months. Visual acuity was hand movements close to face in the right eye and 20/60 in the left eye. Right eye showed anterior staphyloma, with corneal opacification and scleral thinning both temporally and nasally (2 and 4.5 mm in diameter, respectively) adjacent to the 3 and 9 'o clock limbus [Figure 1]a. Left eye showed similar areas of punched out scleral thinning with uveal show temporally and nasally (4 and 2 mm in diameter respectively) [Figure 1]b. Cornea showed minimal stromal haze and the fundus was within normal limits. There was no sign of conjunctival inflammation in both eyes.

Figure 1: (a) Right eye: Diffuse corneal scarring with areas of corneal perforation with uveal prolpase. Nasal and temporal limbus shows sclera thinning. (b) Left eye: Nasal and temporal limbus showing scleral thinning with underlying uveal show. (c) Left Eye: Shows conjunctival sutures in place at the graft site, at one week follow-up. (d) Left Eye: Shows well taken up scleral patch graft with resolving conjunctival sutures

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The patient's cutaneous symptoms preceded ocular symptoms by over a year. Generalized scarring and hyperpigmentation of sun-exposed area of the face and limbs including nose, lips, and dorsum of the hands was noted. Growth of lanugo-type hair was seen over malar areas and ear. He had deformed pinnae with loss of auricular cartilage, flattening of the nasal bridge, shortening of distal phalanges with contracture of the interphalengial joints [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d. Urine analysis showed color change (to maroon) on exposure to light and the qualitative analysis by column chromatography was positive for porphyrins. Peripheral blood smear was suggestive of hemolysis and thrombocytopenia. Liver function tests indicated raised SGOT/SGPT. Skin biopsy of eyelid showed presence of cell-poor subepidermal bullae with festooning of dermal papillae, hyalinised dermal vessel wall with perivascular mononuclear infiltration [Figure 2]e. Confirmation of PCT by molecular studies demonstrating mutations affecting both (UROD) alleles could not be conducted due to financial and facility constraints.

Figure 2: (a) Hyperpigmentation of the skin of the whole face with scleroderma like changes on facial skin, lips, nose, hypertrichosis over malar area. (b) Side view showing resorption of the auricular cartilage with a deformed pinna, along with saddling of the nasal bridge. (c) Shortening of distal phalenges, contractures of the interphalengial joints with skin changes on the dorsum of hand. (d) Skin changes on the foot with contractures of the interpahlengial joints with shortening of digits. (e) Skin biopsy specimen from upper eyelid, H and E stain, and 10 X magnification. Cell-poor sub epidermal bullae (single arrow) along with festooning of dermal papillae (arrow head), thickening and hyalinisation of dermal vessel wall along with perivascular mononuclear infiltrate

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The patient underwent scleral patch graft in the left eye at the temporal limbus. Allogenic donar sclera was secured to the bed with 10-0 nylon sutures. Tenons and conjunctiva were sutured over the graft with 8-0 vicryl sutures. Permanent tarsorrhaphy was done in the right eye. He was started on oral and topical antibiotics, topical steroids, and tear substitute. Strict photoprotection, avoidance of alcohol was advised.

At 1 week, the graft was healing well [Figure 1]c and [Figure 1]d. At his last follow-up visit at 8 months, the right eye was phthisical and left eye was stable. During this period, the patient was not on any systemic treatment for PCT.

Discussion

PCT along with Congenital erythropoietic porphyria (CEP) and erythropoietic porphyria (EP) are primarily cutaneous porphyrias.^{[1],[2],[3],[10]} Cutaneous manifestations are due toischemia and inflammation secondary to accumulation of porphyrins in sun-exposed areas of the skin causing blisters, hyperpigmentation, scleroderma-like changes, and hypertrichosis.^{[9],[10],[11]}

PCT was first described by Waldenstrom.^[2] in 1937 is a chronic multifactorial disorder characterized by typical skin and liver findings, as well as pronounced uroporphyrin excretion in the urine. As against CEP, the symptoms usually start in the 4^th -5^th decade with prominent skin involvement preceding ocular changes.^[3]

Although PCT is the most common type of porphyria, literature on its ocular manifestations is quite limited. Ocular involvement though rare may range from an innocuous pingueculae, and pterygium,^[11] to more serious involvement like acute scleral necrosis and corneal thinning and perforation.^{[5],[6],[7],[8],[9]}

Severe corneal involvement in PCT is quite rare [Table 1]. Predominant scleral involvement is attributed to the presence of porphyrins in tears and scleral end vessels which get activated on exposure to light.^[12] Corneal involvement though rare, can be secondary to conjunctival scarring causing a disturbed tear film and dry eye, eyelid scarring with lagophthalmos^[4],[6] which may eventually lead to corneal opacification, thinning and perforation.

Table 1: PCT cases with severe corneal involvement

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Our patient was likely a case of sporadic PCT due to adult onset of symptoms and a negative family history. The systemic features preceded the ocular involvement by several months as in most of the previous reports.^{[4],[5],[6],[7],[8]} and the eyelid biopsy features were co-relating with the features of PCT.^[9] Corneal involvement in our patient could be attributed to his occupation which involved long hours of outdoor work and history of alcohol intake, which is another widely reported association with serious complications.^{[4],[5],[8],[9]} Alcohol increases gut absorption and deposition of iron in an already compromised liver, thereby stimulating porphyrin and free radical production.^[5]

Protection from UV rays remains the mainstay of treatment. Scleral graft is indicated in cases of significant sclera melt for providing tectonic support which Amniotic membrane transplantation (AMT) may fail to provide.^[5] Although scleral graft has been described for several cases of scleromalacia perforance^[13],[14] ours is the first report in literature of successful scleral graft in a patient of PCT. Yan F has previously reported sclero-corneal allograft in a PCT patient with good results.^[15]

Systemic management for controlling serum porphyrin levels including oral chloroquine, phlebotomy, splenectomy, bone marrow transplantation, etc., have been described. In the largest series by Hammer et al.,^[11] the authors accounted strict control of serum porphyrin levels by early phlebotomies to less severe ocular manifestations in their patients.

Timely intervention in the form of a scleral graft helped in salvaging the only seeing eye in our patient. Though the chances of recurrence are quite high, strict photoprotection and alcohol abstinence helped in maintaining the eye in good condition till the last follow-up in our patient.

Conclusion

We report a rare case of cornealscleral perforation in a patient with PCT successfully treated with autologous scleral patch graft.

Acknowledgement

Dr. Ritesh Narula for all the technical help in manuscript writing, editing and final review of manuscript.

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.

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