Abstract
Association of developmental glaucoma with diabetes insipidus is a rare condition with only single citation as a part of DIDMOAD syndrome. However it has never been previously reported as an association with isolated diabetes insipidus. Thus, we report this case along with the review of literature. A 7 year old male patient with the chief complaint of polyuria and polydipsia since birth was found to have central diabetes insipidus (CDI) on detailed investigation. Ophthalmological examination revealed developmental glaucoma. Genetic sequencing of CYP1B1 gene showed c.1063 C>T ;p.R355X mutation. Central diabetes insipidus was also confirmed in the two younger siblings of the patient. However their ophthalmological examination was normal. Association of developmental glaucoma with CDI in our case can be coincidental or there can be a common pathogenetic mechanism for this. We recommend glaucoma examination in cases with congenital CDI to show more evidence for this association.
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