Porphyria: varied ocular manifestations and management

Abstract

On review of past 10 years medical records, we could find four typical cases of porphyria with rare ocular manifestations. Cases 1, 2 and 4 have presented with features suggestive of acute scleritis. Based on clinical, biochemical and dermatological evaluation, all these three cases were diagnosed to have congenital erythropoietic porphyria. Case 1 was initially managed with scleral patch graft which on subsequent melt was managed with double layered amniotic membrane grafting along with conjunctival advancement and lateral paramedian tarsorrhaphy in both the eyes. Cases 2 and 4 were managed conservatively with artificial tear drops and general protective measures. Case 3 was presented with multiple failed grafts due to repeated ulceration and infection. Owing to multiple failed grafts, Boston keratoprosthesis was done and the patient is doing well with stable kertaoprosthesis at the last follow-up visit.

Figure 1

Right eye (A) shows an area of scleral necrosis and thinning whereas left eye (B) shows an area of scleral necrosis and uveal prolapse.

Figure 2

Face shows hyperpigmentation, scarring and thickening of skin.

Figure 3

Right eye shows an area of scleral necrosis and thinning.

Figure 4

Stable keratoprosthesis at the last follow-up visit.

Figure 5

Stable ocular surface at the last follow-up visit.