Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.

Nitisinone, although unapproved for use in alkaptonuria (AKU), is currently the only homogentisic acid lowering therapy with a potential to modify disease progression in AKU. Therefore, safe use of nitisinone off-label requires identifying and managing tyrosine keratopathy. A 22-year-old male with AKU commenced 2 mg daily nitisinone after full assessment. He was issued an alert card explaining potential ocular symptoms such as red eye, tearing, ocular pain and visual impairment and how to manage them. On his first and second annual follow-up visits to the National Alkaptonuria Centre (NAC), there was no corneal keratopathy on slit lamp examination. On his third follow-up annual visit to the NAC, he was found to have typical dendritiform corneal keratopathy in both eyes which was asymptomatic. Nitisinone was suspended until a repeat slit lamp examination, 2 weeks later, confirmed that the keratopathy had resolved. He recommenced nitisinone 2 mg daily with a stricter low protein diet. On his fourth annual follow-up visit to the NAC, a routine slit lamp examination showed mild corneal keratopathy in the left eye. This is despite him reporting no ocular symptoms. This case highlights the fact that corneal keratopathy can occur without symptoms and any monitoring plan with off-label use of nitisinone in AKU will need to take this possibility into account. This is also the first time that typical corneal keratopathy has been described with the use of low dose nitisinone in AKU without symptoms.

The Influence of Donor and Recipient Gender Incompatibility on Corneal Transplant Rejection and Failure.

In vascularized organ transplants, gender mismatches have higher rates of immunological rejection. We investigated the influence of gender incompatibility, including H-Y incompatibility, on corneal transplant graft rejection and failure. Patients were included who had undergone a first corneal transplant for keratoconus (KC), Fuchs endothelial dystrophy (FED), pseudophakic bullous keratopathy (PBK), infection and other indications. A Cox regression model was fitted for each indication to determine factors affecting graft failure and rejection at 5 years. The impact of gender, including H-Y, matching was analyzed after accounting for other factors, including known risk factors. Of 18 171 patients, 4314 had undergone a transplant for FED, 4783 for KC, 3669 for PBK, 1903 for infection and 3502 for other disorders. H-Y mismatched (male [M]→female [F]) corneas were at greater risk of graft failure or rejection. For FED, F→F were 40% less likely to fail (p < 0.0001) and 30% less likely to reject (p = 0.01); M→M were 20% less likely to fail (p = 0.04) and 30% less likely to reject (p = 0.01). For KC, M→M matched corneas were 30% less likely to fail (p = 0.05) and 20% less likely to reject (p = 0.01) compared with H-Y mismatches. H-Y antigen mismatched (M→F) patients were at greater risk of rejection or graft failure.

Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report.

We describe a patient with ultra-rare disease, alkaptonuria, who developed tyrosine keratopathy following nitisinone therapy of 2 mg on alternate days. His vision became impaired approximately 7 weeks following the commencement of nitisinone and ophthalmological examination at week nine showed characteristic dendritic keratopathy associated with tyrosinaemia. The corneal lesion as well as his visual symptoms normalized completely following discontinuation of nitisinone. This is the first documented report of keratopathy due to acquired tyrosinaemia due to very low-dose nitisinone.

Bilateral posterior dislocation of the crystalline lens after a head injury sustained during a seizure.

This article presents a case of bilateral posterior dislocations of the crystalline lens in a patient with epilepsy who presented with reduced vision and anisocoria 2 weeks after having sustained head injuries during a seizure. The possibility of lens dislocation was raised only at this time, and subsequently confirmed on computed tomography. Such patients may require prompt referral to the ophthalmologist to treat complications such as functional aphakia, uveitis and more seriously pupillary block glaucoma. This case highlights the importance of ocular examination of head injuries to rule out possible ophthalmological pathology.

"Here's egg in your eye": a prospective study of blunt ocular trauma resulting from thrown eggs.

OBJECTIVE: To see if a public awareness campaign might be justified around Halloween with regard to the dangers of egg throwing. METHOD: A prospective study was carried out of all patients who attended the St Paul's Eye Unit's Primary Care Department with ocular injuries resulting from a thrown egg over a 14-month period from November 2004. All injuries were classified as minor, intermediate or major and patients were followed up until discharge. RESULTS: 13 ocular injuries that were attributed to assault with a raw egg were reported. In all the 13 cases, the eggs had been thrown by strangers. 12 of the patients were men and the average age of the victims was 27.9 years. 9 patients were injured in the left eye and there were no bilateral injuries. On presentation, only 1 patient had a visual acuity of 6/6, 7 presented at 6/9, with the remainder having 6/18 or worse. All the patients had closed globe injuries. 8 injuries were classified as major injuries. 4 patients had permanent sequelae, with one suffering permanent, severe visual loss. CONCLUSIONS: Although most of our patients showed improvement in visual acuity, there were severe injuries, with the potential for severe ocular morbidity. We conclude that there is sufficient injury caused by this prank to warrant a public health message. At the least this practice should not be promoted by the press.