2020–2021 BCSC Basic and Clinical Science Course™
6 Pediatric Ophthalmology and Strabismus
Part II: Pediatric Ophthalmology
Chapter 21: Disorders of the Anterior Segment
Abnormalities of Central and Diffuse Corneal Transparency
The mnemonic STUMPED refers to sclerocornea, tears in Descemet membrane (usually owing to forceps trauma or congenital glaucoma), ulcers (infection; see Chapter 28), metabolic disorders (eg, mucopolysaccharidosis), Peters anomaly, edema (eg, congenital hereditary endothelial dystrophy [CHED], posterior polymorphous corneal dystrophy [PPCD], congenital hereditary stromal dystrophy [CHSD], glaucoma), and dermoid (Table 21-1). Although this mnemonic has been used when the differential diagnosis of corneal opacity in young patients is considered, an alternative and more useful classification of corneal opacities is based on whether they are primary or secondary (Table 21-2).
Table 21-1 Differential Diagnosis of Infantile Corneal Opacities
Table 21-2 Primary and Secondary Corneal Opacities: An Alternative Classification
Congenital hereditary endothelial dystrophy
In CHED, the cornea is diffusely and uniformly edematous (thick), often with a mosaic haze (Fig 21-6). The phenotype is specific for biallelic SLC4A11 mutations. On measurement, intraocular pressure is sometimes falsely elevated, which can lead to the misdiagnosis of glaucoma. Deafness presents later in some cases (Harboyan syndrome).
Figure 21-6 Congenital hereditary endothelial dystrophy. Note the diffuse mosaic haze, bluish discoloration, and thickness of the cornea.
(Courtesy of Arif O. Khan, MD.)
Congenital hereditary stromal dystrophy
An autosomal dominant condition, CHSD is extremely rare. It is characterized by a smooth, normal epithelium with flaky or feathery clouding of the stroma, which is of normal thickness.
Weiss JS, Møller HU, Aldave AJ, et al. IC3D classification of corneal dystrophies—edition 2. Cornea. 2015;34(2):117–159. [Erratum appears in Cornea. 2015;34(10):e32.]
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.