CHAPTER 17

Eyelid Disorders

Congenital Eyelid Disorders

Congenital eyelid disorders result from abnormal differentiation of the eyelids and adnexa, developmental arrest, intrauterine environmental insults, and other unknown factors (see also BCSC Section 2, Fundamentals and Principles of Ophthalmology, and Section 7, Orbit, Eyelids, and Lacrimal System).

Eyelid malformations can be isolated, be associated with orbital malformations, or represent features of a syndrome; therefore, systematic evaluation of the eyelids, ocular adnexa, and interpupillary distance is an essential part of the clinical evaluation of a dysmorphic infant. Morphologic measurements of the eyelids and orbit can be performed with transparent rulers or calipers and compared with normal reference measures (Fig 17-1). Alternatively, indexes such as the Farkas canthal index, defined as the ratio of inner canthal distance to outer canthal distance × 10, can be used. Hypotelorism and hypertelorism are defined as having canthal indexes less than 38 and greater than 42, respectively. It is important to consider ethnic variations (see also Chapter 18).

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.)

Telecanthus

Telecanthus is a condition characterized by a greater-than-normal distance between the inner canthi. It is considered primary if the interpupillary distance is normal and secondary if the interpupillary distance is greater than normal. Telecanthus is common in many syndromes. This condition must be

distinguished from hypertelorism, which is described in Chapter 18.

Dystopia Canthorum

Dystopia canthorum is characteristic of Waardenburg syndrome type 1. It is lateral displacement of both the inner canthi and the lacrimal puncta such that an imaginary vertical line connecting the upper and lower puncta crosses the cornea (Fig 17-2).

Figure 17-2 Dystopia canthorum in a patient with Waardenburg syndrome. Notice that the vertical lines drawn through the

puncta intersect the cornea. (Courtesy of Amy Hutchinson, MD.)

Cryptophthalmos

Cryptophthalmos, a rare condition, results from failed differentiation of eyelid structures. The skin passes uninterrupted from the forehead, over the eye, to the cheek and blends in with the cornea, which is usually malformed (Fig 17-3). Fraser syndrome is an autosomal recessive disorder that is characterized by partial syndactyly and genitourinary anomalies; it may include cryptophthalmos and other ocular malformations.

Figure 17-3 Cryptophthalmos, left eye.

Ablepharon

Ablepharon, absence or severe hypoplasia of the eyelids, is very rare. Affected patients are at high risk for exposure keratopathy. It is seen in ablepharon macrostomia syndrome.

Congenital Coloboma of the Eyelid

Congenital eyelid coloboma (eyelid clefting or notching) usually involves the upper eyelid and can range from a small notch to a defect encompassing the horizontal length of the eyelid. The eyelid may be fused to the globe (Fig 17-4). Eyelid colobomas are unrelated to other ocular colobomas and are commonly associated with Goldenhar syndrome or amniotic band syndrome. The eye of an infant with a congenital eyelid coloboma should be observed for exposure keratopathy. Surgical closure of the eyelid defect is required in most cases.