Anterior Segment Developmental Anomalies

 Infant horizontal corneal diameter less than 10 mm; adult horizontal corneal diameter less than 11 mm (Fig. 3-1)

 Shallow anterior chamber, angle-closure or open-angle glaucoma, corneal flattening, and hyperopia

 May have associated nanophthalmos (Table 3-1)

 Other ocular dimensions are normal.


 Manage refractive error and search for other ocular and systemic anomalies.


 Varies depending on associated ocular and systemic abnormalities

TABLE 3-1. Association of Microcornea

Figure 3-1. Microcornea. This cornea measured 8.5 to 9.0 mm in diameter. Otherwise the eye was essentially normal.


Megalocornea is an uncommon congenital, bilateral condition that is usually inherited in an X-linked recessive manner and is therefore found mostly in males.


 Clear cornea with a horizontal diameter of greater than 12 mm in the neonate and 13 mm in adults (Fig. 3-2)

 Very deep anterior chamber

 Normal intraocular pressure

 Corneal steepening, high myopia, and astigmatism, but good visual acuity

 Lens subluxation may occur as a result of zonular stretching.

 May develop glaucoma secondary to angle abnormalities


 Manage refractive error and search for other ocular and systemic anomalies, especially glaucoma and lens abnormalities.


 Generally good, but depends on associated ocular and systemic abnormalities (Table 3-2)

TABLE 3-2. Associations of Megalocornea

Figure 3-2. Megalocornea. This cornea measured 14 mm in diameter. The cornea is clear except for some calcific degeneration nasally and temporally.


Nanophthalmos is an uncommon, congenital, bilateral condition in which the globe has reduced volume but is otherwise grossly normal.


 Very high hyperopia (e.g., +12D to +15D)

 Adult corneal diameter is reduced, but the lens has a normal volume.

 Short axial length (e.g., 16–18 mm)

 Shallow anterior chamber

 Thick sclera

 Fundus may show a crowded disc, vascular tortuosity, and macular hypoplasia

Associated Problems

 Angle-closure glaucoma

 Uveal effusion

 Retinal detachment

 Poorly tolerated intraocular surgery


Microphthalmos is an uncommon unilateral or bilateral condition in which the axial length of the eye is reduced and the eye is malformed (Fig. 3-3). The effects on vision depend on its severity and the presence of associated anomalies. There are two types of microphthalmos: noncolobomatous and colobomatous (Table 3-3).

TABLE 3-3. Types of Microphthalmos

 CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, and genital or ear anomalies)

Figure 3-3. Microphthalmos. This microphthalmic eye has a small cornea, abnormal iris, and overall small size. (Courtesy of Peter Laibson, MD.)


Buphthalmos is an uncommon, usually bilateral condition in which the globe is enlarged as a result of stretching of the cornea and sclera because of increased intraocular pressure before birth or during the first 3 years of life.


 Large cornea with variable scarring; may develop corneal edema later in life

 Horizontal or curvilinear ruptures in Descemet’s membrane (Haab’s striae) (Fig. 3-4)

 Very deep anterior chamber

 Angle anomalies


 Optic disc cupping

Associations of Infantile Glaucoma



 Anterior segment dysgeneses

 Congenital ectropion uveae


 Down’s syndrome

 Lowe’s syndrome


 Neurofibromatosis type 1

 Nevus of Ota

 Patau’s syndrome (trisomy 13)

 Pierre Robin’s syndrome

 Rieger’s syndrome

 Sturge-Weber syndrome


 Management of glaucoma by a glaucoma specialist


 Guarded, depending on amount of optic nerve damage prior to diagnosis, efficacy of treatment, and associated ocular and systemic disorders. Haab’s striae of the cornea do not prevent good vision.

Figure 3-4. Haab’s striae. A. These breaks in Descemet’s membrane occurred secondary to congenital glaucoma. Note the multiple parallel swirling lines, which are rolled-up edges of Descemet’s membrane. B. Multiple parallel swirling lines are evident in this eye with congenital glaucoma.


Congenital anterior staphyloma and keratectasia are extremely rare, congenital, usually unilateral conditions resulting in severe corneal protrusion and occasionally perforation (Fig. 3-5).


 It is probably due to intrauterine keratitis.


 Severe corneal opacification and protrusion of corneal tissue beyond the plane of the eyelids.

 Endothelium, Descemet’s, and posterior corneal tissue are absent.

 It may be lined by uveal tissue posteriorly.


 A penetrating keratoplasty or anterior segment transplant can be attempted in bilateral cases, but the success rate is extremely poor. Most eyes will undergo an enucleation.



Figure 3-5. Keratectasia. Gross specimen after enucleation of an eye with a large corneal staphyloma after suspected intrauterine infection. Note the massive protrusion anterior to the corneal limbus. (Courtesy of Peter Laibson, MD.)

Only gold members can continue reading. Log In or Register to continue

Stay updated, free articles. Join our Telegram channel

Nov 5, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Anterior Segment Developmental Anomalies

Full access? Get Clinical Tree

Get Clinical Tree app for offline access