Case of PCT With Ocular Symptoms Described in Report From India

Marisa Wexler MS avatar

by Marisa Wexler MS |

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The case of a man with porphyria cutanea tarda (PCT) that damaged his eyes — a rare manifestation of the disease that progressed to the point that it threatened his eyesight — was described in a report from India.

The report, “Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda,” was published in the journal BMC Case Reports.

PCT, the most common type of porphyria, is mainly characterized by skin damage in response to sunlight. Like other porphyria types, PCT is characterized by disruptions in the production of a molecule called heme, resulting in the toxic buildup of intermediary molecules in different parts of the body.

Here, researchers described the case of a 58-year-old Asian man who went to a specialty center with complaints of eye dryness, mild redness, and photophobia (abnormal visual sensitivity to light) that had persisted for about a month.

“I often used to feel a burning sensation, foreign body sensation, discomfort, and redness in both the eyes especially in daytime,” the patient said in an accompanying perspective. “Since I am a clerk, I have to work long hours in the sun which makes the situation worse.”

Clinical examination revealed thinning and damage in the sclera, or the white part of the eyes, and the cornea, or the outer covering of the eyes. Clinicians also noted skin damage indicative of PCT. Urine tests revealed abnormal levels of certain heme-related molecules, which confirmed the diagnosis.

The man was instructed to protect himself from the sun (for example, by using dark sunglasses) and was given lubricating eyedrops along with an anti-inflammatory medication.

After a few visits to the specialty center, the patient stopped going there and instead went to a local doctor in his village. The local doctor prescribed eyedrops that eased his discomfort.

“I went back to my village and did not take it [treatment] so seriously in the beginning. … Due to workload and family responsibilities I completely ignored my condition,” the patient said.

Then as time went on, he started to experience vision problems. Despite complaining about these issues, “nothing much was done by the local doctor,” he said.

“This went on for 6 years and I kept using the drop discontinuously until when it became out of control,” he added.

At that point, the man returned to the specialty clinic. Examination revealed scarring in the cornea, and he was started on more aggressive treatments.

“When I came here the senior doctor said that I have developed a corneal opacity due to lack of care and will require vigorous treatment without any further delay,” the patient said. “I realized my mistake and starting putting the drops continuously. After a week’s use only I started feeling a little comfort in both the redness and foreign body sensation.”

“The ocular [eye] surface of the patient has significantly improved in the past 3 months,” the researchers wrote. “There was significant control of surface inflammation, dry eye symptoms and halt in disease progression.”

The patient is planning to undergo a cornea transplant once his eyes are healthy enough for the procedure.

“I am advised to go for corneal transplantation once the doctor feels my eyes have become healthy,” he said. “I am highly grateful to all the doctors for giving me their precious time and counseling me and my family for the same.”