Category Archives: Opthalmology

Thin Layer Chromatography and Ophthalmology

This bit of insight comes from our friends at Medical Blog.

corneaA variety of genetic, metabolic, developmental, and idiopathic causes can result in congenital clouding of the cornea. A common reason for congenital clouding of the cornea is congenital glaucoma. Other major causes of corneal clouding include the following: Birth trauma Peters anomaly Dermoid tumors (limbal dermoids) Sclerocornea Congenital hereditary endothelial dystrophy (CHED) Mucopolysaccharidoses Infectious/inflammatory processes The following is a mnemonic for the causes of congenital clouding of the cornea: S – Sclerocornea T – Tears in the Descemet membrane secondary to birth trauma or congenital glaucoma U – Ulcers M – Metabolic P – Peters anomaly E – Edema (CHED) D – Dermoid Other rarer causes of congenital clouding of the cornea include the following: cornea plana, corneal keloids, oculoauriculovertebral (OAV) dysplasia (Goldenhar-Gorlin syndrome), congenital corneal ectasia, congenital hereditary stromal dystrophy, posterior polymorphous dystrophy, and Fryns syndrome.

A 4-month-old male infant had severe corneal opacity since birth. Examination revealed buphthalmos, increased IOP, and corneal opacity with neovascularization but not a dysmorphic face or hirsutism. The liver and spleen were impalpable. Hypotonia, poor head control, and absence of Moro and grasping reflexes were noted. He had no evidence of congenital infection (toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex [TORCH] study). Urine and plasma amino acid levels were normal. However, thin-layer chromatography showed excessive urinary excretion of heparan sulfate. Corneal transplantation was performed at 6 months of age. Histopathology of the corneal button showed homogeneous thickening of the Bowman layer and pinkish intracytoplasmic substances in the corneal stroma. The Alcian blue stain was positive, consistent with MPS of the cornea.

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