Familial Blau syndrome:First molecularly confirmed report from India

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India.

Causes of corneal graft failure in India.

The success of corneal grafting in visual rehabilitation of the corneal blind in India depends on survival of the grafts. Understanding the causes of graft failure may help reduce the risk of failure. We studied these causes in a series of 638 graft failures at our institution. Multivariate logistic regression analysis was used to evaluate the association of particular causes of graft failure with indications for grafting, socioeconomic status, age, sex, host corneal vascularization, donor corneal quality, and experience of surgeon. The major causes of graft failure were allograft rejection (29.2%), increased intraocular pressure (16.9%), infection excluding endophthalmitis (15.4%), and surface problems (12.7%). The odds of infection causing graft failure were significantly higher in patients of lower socioeconomic status (odds ratio 2.45, 95% CI 1.45-4.15). Surface problems as a cause of graft failure was significantly associated with grafts done for corneal scarring or for regrafts (odds ratio 3.36, 95% CI 1.80-6.30). Increased intraocular pressure as a cause of graft failure had significant association with grafts done for aphakic or pseudophakic bullous keratopathy, congenital conditions or glaucoma, or regrafts (odds ratio 2.19, 95% CI 1.25-3.84). Corneal dystrophy was the indication for grafting in 12 of the 13 cases of graft failure due to recurrence of host disease. Surface problems, increased intraocular pressure, and infection are modifiable risk factors that are more likely to cause graft failure in certain categories of patients in India. Knowledge about these associations can be helpful in looking for and aggressively treating these modifiable risk factors in the at-risk categories of corneal graft patients. This can possibly reduce the chance of graft failure.

Indications for penetrating keratoplasty in India.

Indications for penetrating keratoplasty (PK) in the developing world from a large series are not well documented. This study was done to evaluate the indications for PK in a major eye care institution in India. The records for a consecutive series of 1,964 PKs were analysed and multiple logistic regression was used to study the effect of age, socioeconomic status and sex on the indications for PK. The indications for PK were corneal scarring in 551 (28.1%) including adherent leukoma in 147 (7.5%), regrafts in 336 (17.1%), active infectious keratitis in 239 (12.2%), aphakic bullous keratopathy in 231 (11.8%), pseudophakic bullous keratopathy in 209 (10.6%), corneal dystrophies in 165 (8.4%) including Fuchs' dystrophy in 23 (1.2%), keratoconus in 118 (6%), and miscellaneous in 115 (5.9%). The odds that the patient belonged to lower socioeconomic status were significantly higher if the PK was done for active infectious keratitis (odds ratio 2.73, p < 0.0001), corneal scarring (odds ratio 1.72, p = 0.0009) or regraft (odds ratio 1.44, p = 0.047). Corneal scarring, including adherent leukoma, and active infectious keratitis are relatively more common indications whereas keratoconus, pseudophakic bullous keratopathy and Fuchs' dystrophy are less common indications for PK in India than reported from the developed world. Indications for PK which carry a poorer prognosis for graft survival are relatively more common in India than in the developed world.