Cornelia de Lange Syndrome with Congenital Glaucoma

Cornelia De Lange syndrome (CDLS), also known as Brachmann de Lange syndrome is a rare syndrome. It is characterised by distinctive facial dysmorphism, growth retardation, developmental delay, upper limb reduction defects, gastroesophageal dysfunction, ophthalmologic and genitourinary anomalies, hirsutism, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, and hearing loss. The syndrome was first described by a Dutch paediatrician named Cornelia de Lange, in 1933.

Though the genetic basis of this syndrome is not clear, a majority of cases are due to spontaneous mutations. The defective gene can be inherited from either parent, making it autosomal dominant type of inheritance. Synophrys, long curled lashes, myopia, and hypertrichosis of the brows. These patients have also been found to have ptosis, epiphora, nasolacrimal duct obstruction, and microcornea, congenital glaucoma, corneal opacities, iris heterochromia and optic nerve head pallor/atrophy.

Hypotony as a Hazard of Trabeculectomy with Mitomycin C

An eighty two year old Caucasian lady with primary open angle glaucoma attended eye clinic. She was using guttate latanoprost 50 g/ml, Brimonidine 2 mg/ml and combined Dorzolamide 20 g/ml and Timolol 5 mg/ml.

This lady was myopic with right eye manifest refraction spherical equivalent of -2.00 and left eye manifest refraction spherical equivalent of -8.00 dioptres. The left eye was amblyopic as a result of this anisometropia. This lady had had bilateral uncomplicated cataract extractions by phacoemulsification with intraocular lens implantation and subsequently bilateral neodymium yttrium aluminium garnet or Nd: YAG laser posterior capsulotomies.

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Surgical Management of Glaucoma in Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) or encephalo-trigeminal hemangiomatosis is a sporadic, mesodermal phakomatosis characterised by hemangiomas involving many parts of the body, particularly ocular, intracranial and facial cutaneous structures.

Glaucoma is a common feature, with an incidence of 30%-71% in patients with Sturge-Weber syndrome. Many mechanisms of raised intraocular pressure have been described in the past, the most consistent being congenital trabeculodysgenesis, increased episcleral venous pressure and hypersecretion due to ciliary body angioma.

An increased risk of intra and post-operative complications has been noted with glaucoma filtering procedures in these patients, predominantly due to rupture of the fragile vasculature in the choroidal hemangiomas, leading to expulsive choroidal haemorrhage or exudative choroidal detachment (CD) caused by sudden decompression during or after filtering procedures. Prohylactic sclerotomies have been advocated, to be performed prior to ocular decompression, during filtering procedures in order to avoid these complications.

Ocular Biometry in Patients with Primary Open Angle Glaucoma (POAG)

Glaucoma is the leading cause of blindness all over the world after cataract blindness. In 2010, worldwide 60.5 million people were expected to have OAG (Open angle glaucoma) and ACG (Angle closure glaucoma), increasing to 79.6 million by 2020, and of these, 74% will have OAG1. Asians represent 47% of those with all glaucoma and 87% of those with ACG1. 4.5 million People with OAG and 3.9 million people with ACG were expected to have bilateral blindness in 2010, rising to 5.9 and 5.3 million people in 2020, respectively.

There are approximately 11.2 million persons aged 40 years and older with glaucoma in India. Primary open angle glaucoma is estimated to affect 6.48 million persons. The estimated number with primary angle-closure glaucoma is 2.54 million. Those with any form of primary angle-closure disease could comprise 27.6 million persons.