Cornelia de Lange Syndrome with Congenital Glaucoma

Cornelia De Lange syndrome (CDLS), also known as Brachmann de Lange syndrome is a rare syndrome. It ischaracterised 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 micro cornea, congenital glaucoma, corneal opacities, iris heterochromia and optic nerve head pallor/atrophy.

Higher Axial Length and Flatter Cornea in Primary Open Angle Glaucoma than in the Age Related Glaucoma Cases

Glaucoma is a leading cause for the blindness globally and 79.6% millions might be affected by Open Angle Glaucoma (OAG) and Angle Closure Glaucoma (ACG) by the year 2020. 74% of these patients may be diagnosed OAG and 47% of the Asian population are affected by it. A study among the 209 patients revealed higher axial length and flatter Cornea among the patients affected by POAG than the age-matched control group.

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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. The aim of study was to evaluate the surgical outcomes in terms of intraocular pressure control, maintenance of visual acuity and complications of glaucoma surgeries, in eyes with Sturge-Weber syndrome and to evaluate risk factors leading to surgical failure.

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Need for the cost-effective techniques to detect and cure open angle glaucoma in Mexico

A transversal study estimated the cost of open angle glaucoma during the first year as $1,144,611,537 USD per annum in Mexico. The study that assessed the socio-economic costs in 30 most populous places of the country suggests the need for cost-effective method that could facilitate the early detection of open angle glaucoma with visual disability.

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