Scleral necrosis in a patient with congenital erythropoietic porphyria.
OBJECTIVE
To report on a patient with congenital erythropoietic porphyria who presented with scleral necrosis.


METHODS
Case report.


RESULTS
A 34-year-old man with a long history of congenital erythropoietic porphyria was referred to us for evaluation of necrotizing scleritis of the right eye. The patient presented with a 3-month duration of eye pain and redness, which initially responded to oral and topical corticosteroids. However, upon corticosteroid taper, the symptoms quickly recurred. The patient was initially tried on oral azathioprine therapy, which failed to induce resolution of the symptoms. Full serological investigation did not suggest that the necrotic process was secondary to an immunologically driven process, and we proceeded with scleral biopsy and patch graft. The biopsy disclosed atrophic changes of the sclera with calcium-like plaques, without evidence of inflammation. Aggressive strategy of sun avoidance was implemented and immunosuppressive therapy discontinued. One year after the surgery, the patient remains asymptomatic without recurrence of ocular disease.


CONCLUSIONS
This case highlights the usefulness of tissue biopsy in porphyria when one is uncertain as to whether a necrotizing process is driven by inflammation or phototoxic damage. When the underlying mechanism is clearly identified, the appropriate therapy can then be instituted to prevent further damage.
Siddique
Sana S
SS
Massachusetts Eye Research and Surgery Institution, Cambridge, MA 02142, USA.
Gonzalez-Gonzalez
Luis A
LA
Thakuria
Pranjal
P
Chang
Peter Y
PY
Foster
C Stephen
CS
D000328:Adult; D001706:Biopsy; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009336:Necrosis; D017092:Porphyria, Erythropoietic / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D012008:Recurrence; D012590:Sclera / Q000473:pathology*; D015423:Scleritis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy
D005938:Glucocorticoids