Knobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.

INTRODUCTION: Pediatric rhegmatogenous retinal detachments, especially those presenting at birth or soon afterward, have a high likelihood of syndromic associations that can be confirmed by genetic testing. MATERIALS AND METHODS: A 5-month-old child was found to have high myopia in the right eye (RE) with highly tessellated fundus, opalescent vitreous, and peripheral thinning. Left eye had a shallow retinal detachment for which he underwent belt buckling. The baby had an occipital skin tag. A provisional diagnosis of Stickler syndrome was made. RESULTS: On 1-month follow-up, left eye retina was attached and 360° laser barrage was done. Fluorescein angiography was done which revealed peripheral avascular retina in both eyes. MRI and genetic testing were suggestive of syndromic association. Genetic testing revealed pathogenic mutation in COL 18A1 suggestive of Knobloch syndrome in the baby, and both parents were found to be carriers of the same mutation. However, brain MRI showed features not pathognomonic of Knobloch syndrome. CONCLUSION: Although Knobloch syndrome is associated with vitreoretinal degeneration and high risk of retinal detachment, there seems to be no recommendation for prophylaxis in the other eye and therefore we preferred to observe the RE closely. A unique feature noted in our case was the peripheral avascular zone (PAZ). The PAZ could be contributed by multiple factors such as high myopia, or due to endostatin deficiency (which is a derivative of collagen XVIII) or an underlying WNT signalling abnormality.

A Case of Idiopathic Retinitis Vasculitis Aneurysms and Neuroretinitis (IRVAN) Treated with Adalimumab.

PURPOSE: To report a case of IRVAN in a 13-year-old girl responding well to Adalimumab and Azathioprine. RESULTS: A 13-year-old girl presented to us with central scotoma for a duration of 10 months. She was treated earlier with oral steroids with poor response. Fundus examination revealed features of IRVAN. She was treated with intravitreal dexamethasone implant in both eyes with oral Mycophenolate Mofetil (MMF) with transient response to it. So she was switched over to subcutaneous Adalimumab 40 mg once in 2 weeks and oral Azathioprine 50 mg BD. The disease activity was well controlled with the current regime. CONCLUSION: Though various treatment modalities have been described in literature for the treatment of IRVAN. This is the first case of IRVAN to be treated with Adalimumab along with Azathioprine to be reported.