Cryptophthalmos

Cryptophthalmos is a rare condition resulting from failed differentiation of eyelid structures. There is partial or complete absence of the palpebral fissure, as the skin extends uninterrupted from the forehead to the cheek, covering the eye (Fig 17-3). The adnexa are partially developed and fused to the anterior segment; the cornea is usually malformed.

Figure 17-1 A, Schematic representation of measurements involved in the evaluation of the orbital region. OCD = outer canthal distance; IPD = interpupillary distance; ICD = inner canthal distance; PFL = palpebral fissure length. B, ICD measurements according to age. C, OCD measurements according to age. D, IPD measurements according to age. E, PFL measurements according to age.

(Modified with permission from Dollfus H, Verloes A. Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol. 2004;49(6):549.)

Figure 17-2 Dystopia canthorum in a patient with Waardenburg syndrome. Note that the vertical lines drawn through the puncta intersect the cornea.

(Courtesy of Amy Hutchinson, MD.)

Figure 17-3 Cryptophthalmos, left eye.

Fraser syndrome, an autosomal recessive disorder characterized by partial syndactyly and genitourinary anomalies, may include unilateral or bilateral cryptophthalmos and other ocular malformations.

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.