Purpose: Congenital stromal corneal dystrophy (CSCD) is a rare congenital, dominantly inherited disorder characterized by diffuse stromal opacification associated with mutations in the decorin gene (DCN). As only 5 families with genetically confirmed CSCD have been reported, the identification of a novel pedigree provides the opportunity to better characterize the phenotype and genetic basis.Methods: An Armenian family with individuals in 4 consecutive generations demonstrated clinical features consistent with CSCD. Consented individuals underwent slit lamp examination, optical coherence tomography, and confocal microscopy. Genomic DNA was collected from saliva and all coding and adjacent intronic regions of DCN were sequenced. In silico analysis was performed for identified mutation(s). Excised corneal tissue underwent light, electron microscopic, and immunohistochemical evaluation.Results: Affected individuals demonstrated bilateral, diffuse, panstromal corneal opacification. Three of the 6 individuals diagnosed with CSCD underwent genetic analysis; all demonstrated a novel heterozygous frameshift deletion in exon 8 of DCN (p.His317Thrfs*11), predicted to cause a 33 amino acid truncation and to be damaging and disease causing by SIFT and MutationTaster. Light and electron microscopic examination of an excised cornea demonstrated increased corneal thickness, stromal scarring, keratocyte loss, and an irregularity of lamellar collagen spacing and fibril formation. Immunofluorescent examination demonstrated increased DCN immunostaining, predominantly in the widened interlamellar spaces. Conclusions:We report only the sixth pedigree with genetically confirmed CSCD, associated with a novel DCN frameshift mutation. The clinical evaluation, multimodal imaging, and histopathologic assessment in this family with CSCD broaden our understanding of this rare corneal disease.

Aims: To present an atypical case of vernal keratoconjunctivitis associated with unusual inferior location of shield ulcer. Presentation of Case: We are presenting an unusual case of vernal disease in a 7-year-old male associated with 2 corneal ulcers in the same eye, one of which was located inferiorly. The patient was prescribed topical steroids, antihistamine and lubricating eye drops. Three weeks later the symptoms got resolved and ulcers were healed, leaving mild subepithelial fibrosis. The patient was advised to continue antihistamine eye drops for the whole year with prophylactic dosage regimen. Discussion: Vernal keratoconjunctivitis is a bilateral, seasonally recurring inflammation of conjunctiva and cornea. It affects mostly children with male preponderance. In several cases vernal disease can be complicated with development of a shield ulcer, which usually has superior location under upper eyelid. Despite the fact that literature review has revealed two atypical cases with inferior localization reported in India, it is a very rare finding. Our case also was unusual with two shield ulcers, one of which was located inferiorly. Conclusion: This case demonstrates a very rare presentation of an atypical inferiorly located shield ulcer. Literature review revealed only two similar cases in India. Our case demonstrates the usage of topical steroids to be successful and advisable in the treatment of shield ulcer, as it controls the inflammation. Topical antihistamine medications should be added and given for a long period for preventing possible recurrences.