An old man, aged 41, presented with progressive loss of vision in both eyes. He suffered from Lamellar Ichthyosis with pseudoainhum of three toes. Pseudoainhum is the development of constrictive rings around digits.
His skin transglutaminase levels were assessed. They came out significantly low. His visual acuity for both eyes was 6/12 as compared to the normal 6/6. On history, he said that he had been using oral retinoids and tears for his eye condition.
Examination Of Eyelids
A closer look revealed lower lid ectropion in both eyes. Ectropion is an outward deviation or eversion of the eyelids. His eyelashes were covered with scales. He also had chronic blepharitis which is chronic inflammation of the eyelids.
The eyeball moved outward and upward upon closure of the eyelids indicating a normal Bell’s phenomenon.
Eyes on Slit Lamp in This Patient With Lamellar Ichthyosis
A slit lamp examination was also performed. There was thickening in both conjunctiva along with hyperemia. Surprisingly, the corneas were normal. However, there was a small scar in the stroma of left cornea.
Both eyes of the patient had nuclear cataract. The intra-ocular pressure was normal and the fundus did not have any abnormality.
A Rare Case?
It is indeed a rare case. Lamellar Ichthyosis with pseudoainhum of three toes is very unusual. Many eyes changes observed in the patient were also out of the box.
Although, patients with LI can develop ectropion and are at risk for exposure keratopathy (corneal damage or pathology due to excessive exposure and dryness), this patient showed no signs of exposure keratopathy as he had a positive Bell’s phenomenon.
Nuclear cataract is a rare occurrence with LI. This old man had bilateral nuclear cataract. Reduced levels of transglutaminase possibly explain this finding.
The Way Forward
Eye changes seen in patients with Lamellar Ichthyosis are usually progressive and lifelong. Proper care and symptomatic treatment however, can make the condition more tolerable.
