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First Author: P.Ramavat INDIA
Co Author(s): T. Dewan S. Vashisth H. Chawla K. Kapoor A. Saha
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Association of developmental glaucoma with diabetes insipidus is a rare condition with only single citation as a part of DIDMOAD syndrome. However never previously has it been reported as an association with diabetes insipidus. We hence bring to notice this first ever reported case and a review of literature available so far.
Department of Ophthalmology and Department of Paediatrics, Post Graduate institute of Medical Education & Research, Dr Ram Manohar Lohia Hospital, New Delhi, India.
A 7 year- old -male patient presented with polyuria and polydipsia since birth. Child also had diminished vision in eyes (more in the left eye) and excessive watering from both the eyes since infancy. There was family history of similar complaints in 2 younger siblings aged 5 years and 2 years. The index case had a 24 hour urine volume of 10.4 litre/m2/day (normal < 2 litre/m2/day). On investigation his serum Na+ was 140mEq/L, K+ 4.0 mEq/L, urea 19 mg/dl, creatinine 0.5 mg/dl, urine osmolarity 64 m0sm/kg and serum osmolarity was 277 m0sm/kg. Water deprivation test was suggestive of partial diabetes insipidus and desmopressin challenge test was indicative of central diabetes insipidus (CDI). MRI brain was normal. Child was put on oral desmopressin 0.1mg/day on which he had marked improvement in his symptoms. Ophthalmic evaluation of child was conclusive of developmental glaucoma.other systemic evaluation was normal including blood sugar level and audiometry test. Central diabetes insipidus was also confirmed in the two younger siblings; however their ophthalmological examination was normal.
On presentation to ophthalmology clinic, vision was 20/80 in right eye(RE) and FC at 1 foot in left eye(LE). Bilateral (B/L) cornea were enlarged with a size of 14mm*14mm horizontally*vertically (H*V) in RE and 14.5mm*15mm (H*V)in LE. Corneal oedema was present in both eyes (BE), LE>RE. B/L optic disc were pale with a size of 1.56 mm. In RE cup/disc ratio was 0.7:1 with inferior rim less than superior rim and inferior rim pallor. In LE cup/disc ratio was 0.8:1 with inferior rim equal too superior rim and biarcuate notch. Intraocular pressure (IOP) on applanation tonometry was 30 and 34 mm Hg in RE and LE respectively. Central corneal thickness was 570 ṁ and 562 ṁ. Axial length was 24.78mm and 26.09mm. On gonioscopy in BE an anterior iris insertion was observed obscuring ciliary body band in all quadrants, posterior trabecular meshwork was covered by multiple iris processes. Bilateral sequential trabeculectomy was carried out in propositus. IOP reduced to 10 mm Hg in both eyes. Corneal haze reduced and unaided vision improved to 20/60 from fc 1 foot in LE and to 20/60 from 20/80 in RE at 2 wks Post-op. Blood sample sent for genetic study, result are awaited.
Developmental glaucoma had been shown to be associated with various systemic abnormalities including Axenfeld-Rieger syndrome, various chromosomal disorders, oculodermal vascular malformations, congenital rubella, fetal alcohol syndrome, mucopolysaccharidosis and many more. Association between childhood glaucoma and diabetes insipidus has been reported only once to our knowledge. Necdet A. Bekir, Kivanç Güngör, etal reported a case of DIDMOAD syndrome to be associated with juvenile glaucoma .Relatives of the family also had juvenile glaucoma. They claimed it to be the first case of DIDMOAD syndrome to be associated with juvenile glaucoma. In developmental glaucoma, rise in IOP is mainly caused by abnormal development of the anterior chamber angle. In our patient an anterior iris insertion on gonioscopy was suggestive of developmental arrest of anterior chamber angle. Primary congenital glaucoma results from mutation in CYP1B1 gene, and different genes are involved in developmental glaucoma associated with various systemic disorders. Deficient secretion of AVP (Arginine vasopressin) results in CDI. Genetic form usually transmitted in an autosomal dominant mode caused by diverse mutations in the coding region of the AVP-neurophysin II (AVP-NPII) gene ,located on chromosome 20p13.In this type, the AVP deficiency and CDI begins several years after birth which results from selective degeneration of AVP-producing magnocellular neuron. An autosomal recessive form due to inactivating mutation in the AVP gene and X linked recessive form due to unidentified gene on Xq28 have also been described. Mutation in WFS1 gene located on 4p16.1 responsible for DIDMOAD syndrome also causes CDI. Association of developmental glaucoma with congenital partial CDI in our case can be coincidental or there can be a common pathophysiological mechanism for this. Since this is the first case to report such association, we recommend glaucoma examination in cases with congenital CDI to show more evidence for this association.