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Variations in ZNF469 have been associated with Brittle Cornea Syndrome that presents with bluish sclera, loss of vision after trivial trauma, arachnodactyly, and joint laxity. Detailed medical and family history, physical examination, and molecular analysis. A 21-year-old female presented with bluish discoloration of sclera, diminution of vision following trivial trauma in childhood along with hearing loss and systemic features of arachnodactyly and joint laxity. Clinical diagnosis of brittle cornea syndrome was made which was molecularly proven using next-generation sequencing which identified compound heterozygosity in ZNF469 for pathogenic and likely pathogenic nonsense variants. One variant namely NM_001367624.2:c.5882dup was identified in the exon 3 which was novel and classified as likely pathogenic according to American College of Medical Genetics (ACMG) criteria for variant classification. Another variant NM_001367624.2:c.8992C>T in the exon 2 was classified as pathogenic for Brittle Cornea Syndrome 1. The report adds to the allelic heterogeneity in ZNF469 causative of Brittle Cornea Syndrome 1 and shall acquaint the physicians about this potentially vision threatening, underdiagnosed, rare syndrome. [ABSTRACT FROM AUTHOR] more...

Bilateral diffuse uveal melanocytic proliferation (B-DUMP) is a paraneoplastic disorder that may be seen in patients with a known malignancy but more commonly is seen in those without any history of cancer. It leads to multiple uveal tumors with exudative retinal detachment along with thickening of the choroid and generally carries a poor prognosis. Its etio-pathogenesis is poorly understood but is said to involve factors secreted by the systemic malignancy that lead to proliferation of melanocytes in the uvea. We report the presentation and management of a female with history of treated frontal lobe meningioma who presented with neovascular glaucoma along with B-DUMP and was found to have recurrence of the meningioma on neuro-imaging. Central nervous system meningiomas can cause B-DUMP and management of the malignancy may lead to partial resolution of posterior segment manifestations of B-DUMP. [ABSTRACT FROM AUTHOR] more...

Purpose: We aim to look at the complications encountered by a cohort of pediatric uveitis patients from north India.Methods: Retrospectively, complications seen in patients younger than 16 years diagnosed with uveitis between January 2006 to March 2015 were noted.Results: Data of 104 children, with a mean follow-up of 3.40 ± 2.34 years was studied. Cataract (n = 42, 24.00%), band-shaped keratopathy (n = 32, 18.29%) and Glaucoma/OHT (n = 11, 6.29%) were most encountered complications at presentation. Glaucoma/OHT (29.71%; n = 52), cataract (18.86%; n = 33) and maculopathy (n=12;6.86%) were the most common complications at follow up. Maculopathy (35%) and Glaucoma/OHT (20%) were the most common causes of visual acuity ≤3/60.Conclusions: Cataract is the most critical complication in children with uveitis at presentation and raised intraocular pressure occurs at follow-up, perhaps attributed to the treatment. Maculopathy is the most common cause of blindness in these children. [ABSTRACT FROM AUTHOR] more...