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Abstract #78030 Published in IGR 19-4
Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma
Ichhpujani P; Thakur S; Kumar S; Singh RB; Singh RBJournal of Glaucoma 2018; 0:
INTRODUCTION: Glaucoma in patients with Non Bullous Congenital Ichthyosiform Erythroderma (NBCIE) is a rare entity that has not been described in a histologically confirmed case. We present a unique case of coexisting glaucoma, ichthyosis and dwarfism that has not been previously described. METHODS: We present a case of NBCIE with glaucoma and dwarfism that presented to our outpatient department. The patient was referred for watering and photophobia that were due to an epithelial defect that was subsequently managed conservatively. Investigations revealed the existence of a constellation of findings that are presented here. RESULTS: NBCIE, glaucoma and dwarfism represent a spectrum of diseases that seem to have a syndromic association. More gene linkage based analysis are however needed to further confirm our observations. CONCLUSION: NBCIE, glaucoma and dwarfism can often occur together and need to be assessed and managed individually. Early diagnosis of this spectrum can help improve patient management and quality of life. Dermatologists must get an ocular examination done for icthyoses patients.
Department of Ophthalmology, Government Medical College and Hospital, Sector-32, Chandigarh, India.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
