This document discusses various congenital corneal anomalies that can occur due to defects in the migration of mesenchymal cells during eye development. It describes conditions such as microcornea, megalocornea, Peters' anomaly, Axenfeld's anomaly, and dermoids. Microcornea involves an abnormally small cornea and is often associated with other eye abnormalities. Megalocornea is characterized by an enlarged cornea. Peters' anomaly can cause corneal opacities and iris strands attaching to the cornea. Axenfeld's anomaly involves posterior embryotoxon and iris strands on the cornea. Dermoids are growths of skin-like tissue on the cornea or limbus.

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INTRODUCTION
Corneal anomalies are often present at birth. The cause can be genetic,
the result of a teratogen, or idiopathic. At the fifth week of gestation,
the lens vesicle separates from the surface ectoderm. Mesenchymal
neural crest cells migrate between the surface ectoderm and the optic
cup in what will become the anterior chamber.1
The first wave of mes-
enchyme becomes the corneal endothelium and trabecular meshwork,
the second becomes the corneal stromal keratocytes, and the third
becomes the anterior iris stroma. Separation of these mesenchyme lay-
ers forms the anterior chamber. Alterations in this process result in the
anomalies of corneal size, shape, and clarity, as described below.
Recent studies from large corneal referral practices have shown the
most common conditions requiring surgical intervention were: poste-
rior polymorphous dystrophy, Peters’ anomaly, congenital glaucoma,
and sclerocornea. After a mean follow-up of 40 months, 78% of corneal
grafts remained clear.2
However, medical management accounted for
the majority (52.7%) of eyes with congenital corneal opacities.3
SIZE AND SHAPE ANOMALIES
MICROCORNEA
The cornea’s horizontal diameter is normally 9.5–10 mm at birth and
10–12.5 mm in adulthood. An adult cornea less than 10 mm in hori-
zontal diameter is called microcornea and may occur in conjunction
with microphthalmos, which is a small disorganized eye often associ-
ated with anomalies such as coloboma of the iris, retina, choroid, and
even the optic nerve (Fig. 4-3-1). In contrast, nanophthalmos is a small
functional eye that has normal internal organization and proportions.
Epidemiology, Pathogenesis,
and Ocular Manifestations
Most cases are sporadic, although autosomal recessive and autosomal
dominant pedigrees have been reported.4
Microphthalmos in associa-
tion with dermal aplasia and sclerocornea is known as MIDAS syn-
drome (caused by deletion in Xp22).5
In microcornea, because the
remainder of the eye is normal in size, angle-closure glaucoma may
occur as the lens enlarges. An autosomal dominant variant of micro-
cornea associated with cataract and other anterior segment anomalies
has been described.6
Microcornea has been associated with numerous
syndromes, including the “micro” syndrome of microcornea, congenital
cataract, mental retardation, retinal dystrophy, optic atrophy, hypogeni-
talism, and microcephaly.7
Treatment
Treatment involves spectacle correction for hyperopia resulting from
the flat cornea. Other ocular pathology such as cataract and glaucoma
may require separate treatment.
MEGALOCORNEA
Epidemiology, Pathogenesis,
and Ocular Manifestations
Megalocornea is characterized by bilateral anterior segment enlarge-
ment with a corneal horizontal diameter of 12 mm or greater at birth
and 13 mm or greater after 2 years of age (Fig. 4-3-2). It is distinct from
buphthalmos, which manifests as elevated intraocular pressure and an
enlarged globe (which includes an enlarged cornea). The cause appears
to be related to defective growth of the optic cup, which leaves a larger
space for development of the cornea. In utero, elevated intraocular pres-
sure, which spontaneously arrests, may result in similar changes, but
presumably the endothelial cell density decreases and the entire globe
enlarges.
A number of variants of this disorder have been described. Auto-
somal dominant megalocornea without other ocular abnormalities is
the least common. X-linked recessive megalocornea is reported more
frequently and is associated with iris transillumination, pigment dis-
persion, lens subluxation, arcus, and central crocodile shagreen.8,9
Endothelial cell density is normal, which confirms that the enlarge-
ment does not arise from corneal stretching, and corneal clarity and
thickness are usually normal.10
The genetic locus for X-linked megalo-
cornea appears to be in the region Xq21–q22.6. Megalocornea has been
reported in association with congenital miosis,11
ectopia lentis, ectopia
pupillae, and mental retardation.12
Megalophthalmos is an enlarged cornea in an overall enlarged eye
that does not have glaucoma. This is most likely autosomal recessive
with findings similar to X-linked megalocornea, in addition to increased
axial length (often > 30 mm), juvenile cataract, and high myopia.8
Treatment
Treatment is not necessary except for spectacle correction for myopic
refractive error.
Joel Sugar, Hormuz P. Wadia, Roshni A. Vasaiwala 4.3Congenital Corneal Anomalies
SECTION 2 Congenital Abnormailities
PART 4 CORNEA AND OCULAR SURFACE DISEASES
Definition: Developmental abnormalities of the cornea present
at birth.
Key features
■ Not acquired
■ Generally involve defects in the migration of mesenchyme in the
anterior segment of the eye
■ Often associated with iris and lens anomalies
Fig. 4-3-1 Colobomatous microphthalmos. Right eye; note the small cornea and
typical coloboma.

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174
CORNEAANDOCULARSURFACEDISEASES
Fig. 4-3-2 Megalocornea. (A) This patient has corneal diameters of 14 mm
bilaterally. (B) Gross specimen shows appearance of enlarged cornea and heavily
pigmented trabecular meshwork. (B, Courtesy of Dr. M.Yanoff)
A
B
Fig. 4-3-3 Posterior embryotoxon. Schwalbe’s line is evident nasally, superiorly, and
temporally in the eye of this patient.
CORNEAL ABSENCE
Isolated absence of the cornea does not occur. Concomitant and severe
developmental anomalies of the anterior segment or the entire eye are
seen because of the intimate relationship between the ocular structures
in the development of the cornea. Anophthalmos is the extreme;
absence of the cornea and other ocular structures may occur as part of
more extreme genetic developmental disorders. Cryptophthalmos
involves partial or complete failure of eyelid formation, dermoid trans-
formation of the cornea, an undeveloped anterior segment, or a
rudimentary cyst-like globe with an absent anterior segment. Cryp-
tophthalmos also may be associated with systemic anomalies such
as syndactyly and genitourinary anomalies. This syndrome, known
as Fraser syndrome, is inherited as an autosomal recessive trait.
Pseudocryptophthalmos occurs when the lids fail to separate and the
underlying globe is intact.
CONGENITAL CORNEAL ECTASIA
Keratoglobus (discussed in Chapter 4.18) is not congenital, but corneal
ectasia may be present at birth as part of a congenital anterior staphy-
loma, which is often seen with Peters’ anomaly. Congenital corneal
ectasia includes significantly more corneal thinning and bulging com-
pared to Peters’ anomaly (see Fig. 4-3-6), presumably as a consequence
of the same developmental abnormalities in the migration of mesen-
chyme. This anomaly is usually unilateral and is often associated with
iris developmental defects. Anterior staphyloma may also occur as a
result of inflammatory or infectious corneal thinning in utero.
ANOMALIES OF CORNEAL CLARITY
Changes in the first wave of neural crest mesenchyme migration result
in anomalies of the corneal endothelium and anterior chamber angle,
while those in the second wave lead to corneal stromal alterations, and
those in the third wave affect iris development. The factors that com-
monly result in maldevelopment impact more than just one phase in
this process of neural crest differentiation.
ANTERIOR EMBRYOTOXON
Anterior embryotoxon refers to a congenital broad limbus superiorly
with an otherwise normal anterior segment, representing merely a
broad transition from sclera to cornea. The term also is used to describe
an appearance similar to arcus senilis (arcus juvenilis) present at birth.
Though it is often sporadic, autosomal dominant and autosomal reces-
sive pedigrees have been described.
POSTERIOR EMBRYOTOXON
Posterior embryotoxon is likely the most frequently seen anomaly, with
the prevalence being reported as high as 24% in a random population.13
It consists of thickening and anterior displacement of Schwalbe’s line,
which is seen most readily at the slit lamp in the temporal cornea (Fig.
4-3-3). The term toxon is derived from the Greek word for bow, in refer-
ence to the crescent of Schwalbe’s line; when present alone, this has no
functional significance.
CORNEAL KELOIDS
Keloids are white, glistening, protuberant lesions that involve all or part
of the cornea. Although usually resulting from trauma or ocular inflam-
mation, they may be present at birth. Histopathologically, they repre-
sent an irregular array of collagen bundles, fibroblasts, and capillaries
arising in the corneal stroma. They are sometimes progressive and may
be associated with disorders that involve oculodigital manipulation, as
in Lowe’s syndrome. In otherwise healthy eyes, keratoplasty is appro-
priate.14
For lesions in which progressive growth causes discomfort,
dissection of the lesion from the cornea followed by covering with a
conjunctival flap may halt progression.
DERMOIDS
Dermoids (choristomas, or growths of tissue not normally present) may
be found on the cornea, usually at the inferotemporal limbus. At times
they may involve larger areas of the cornea, the entire limbus, the entire
cornea, or the interior of the eye. They usually are round, domed, and
pink to white to yellow in color. They may have hair, or in the lipoder-
moid variant, globules of lipid, as evident on slit-lamp examination.
Induced astigmatism, even amblyopia, may be present. Limbal dermoids
may be associated with other malformations, e.g., Goldenhar’s syn-
drome, which involves lid colobomas, hemifacial microsomia,

3. CongenitalCornealAnomalies
4.3
175
iridocorneal endothelial (ICE) syndrome (which is acquired and usually
unilateral), posterior polymorphous dystrophy with iridocorneal adhe-
sions, and the iridogoniodysgenesis syndrome.20
PETERS’ ANOMALY
Ocular Manifestations
Peters’ anomaly includes a variety of findings, not all of which need to
be present to make the diagnosis. Most cases are sporadic, but Peters’
anomaly can be recessively or occasionally dominantly inherited.
Eighty percent of cases are bilateral. The pathogenesis involves altera-
tion of the migration of neural crest cells. Type I consists of a central or
paracentral corneal opacity with iris strands that arise from the collar-
ette and attach to the periphery of the opacity. Initially, a defect in
corneal endothelium and Descemet’s membrane is present, often with
marked corneal edema, which may extend well beyond the defect (Fig.
4-3-6). Over time, the surrounding endothelium covers the defect and
produces new basement membrane, and the edema regresses leaving
the corneal opacity only.21
Posterior keratoconus and posterior ulcer of
von Hippel may be thought of as Peters’ anomaly without iris adhe-
sions. Peters’ anomaly type II has lens adherence to the posterior cor-
nea, failure of complete separation of the lens from the cornea, and/or
cataract. Type I usually is unilateral, while type II frequently is bilateral.
Peters’ anomaly may be associated with other ocular anomalies (Fig.
4-3-7), including microcornea, cornea plana, sclerocornea, chorioreti-
nal coloboma, iris coloboma, dysgenesis of the angle and iris, persistent
hyperplastic primary vitreous, microphthalmos, optic nerve hypoplasia
and foveal hypoplasia.22
The most frequent associated ocular abnormal-
ity is glaucoma in over 50% of cases.
Systemic Associations
The systemic associations of Peters’ anomaly include short stature, facial
dysmorphism, developmental delay, and delayed skeletal maturation,
preauricular skin tags, and other ear anomalies. Limbal dermoids also
may be associated with mandibular and other facial anomalies.
Histopathology confirms the presence of skin-like collagen with skin
adnexal appendages, which include hair follicles, sweat and sebaceous
glands, and fat. Treatment consists of simple excision, since a plane can
be developed between the lesion and normal sclera, limbus, and cornea,
and the dermoid can be readily removed. Infrequently, the lesion is of
sufficient depth to warrant concurrent lamellar keratoplasty to fill the
defect15
and very rarely may penetrate into the anterior of the eye. The
depth can be ascertained by ultrasound biomicroscopy.16
A rare case of
spontaneous partial regression of a congenital corneal dermoid has
been reported.17
AXENFELD’S ANOMALY AND
RIEGER’S SYNDROME
Axenfeld’s anomaly consists of bilateral posterior embryotoxon with iris
strands adherent to Schwalbe’s line (Fig. 4-3-4). Rieger’s syndrome
includes the changes of Axenfeld’s anomaly along with iris atrophy,
corectopia, and polycoria. Dental anomalies and a flattened midface and
nasal bridge are associated with the Axenfeld–Rieger syndrome (Fig. 4-3-
5). The term anomaly refers to the localized anatomical changes seen,
while the term syndrome refers to the more widespread ocular and sys-
temic findings. Glaucoma occurs in about half of the patients who have
Axenfeld–Rieger syndrome. It appears that Axenfeld’s anomaly and
Rieger’s syndrome arise from retention of neural crest remnants and
primordial endothelium on the iris and chamber angle.18
Defects in the
PITX 2 gene on chromosome 4q25 and in the FKHL7 gene on 6p25, as
well as other defects, have been found in different families with the
Axenfeld–Rieger phenotype.19
Differential diagnosis includes the
Fig. 4-3-4 Axenfeld’s anomaly (posterior embryotoxon). Histological section shows
an iris process attached to the anteriorly displaced Schwalbe’s ring. (CourtesyofDrR.Y.Foos.)
Fig. 4-3-5 Axenfeld–Rieger syndrome. This patient has bilateral glaucoma as well as
dental and facial anomalies.
Fig. 4-3-6 Peters’ anomaly in a neonate. (A) Typical Peters’anomaly type I. (B)
Severe Peters’involvement with corneal thinning and ectasia. This is called a
congenital anterior staphyloma.
A
B

4. 4
176
CORNEAANDOCULARSURFACEDISEASES
Fig. 4-3-7 Severe Peters’ anomaly. This infant has bilateral glaucoma, Peters’
anomaly type II, and features of sclerocornea.
Fig. 4-3-8 Peters’ anomaly. Lens material is attached to the posterior cornea (LM).
Centrally, the endothelium, Descemet’s membrane, and Bowman’s membrane are
not present . The large space (arrow) is an artifact caused by fixation shrinkage.
(Courtesy of Dr. M.Yanoff)
LM
TABLE 4-3-1 RELATIONSHIP OF EMBRYONIC NEURAL CREST
MIGRATORY“WAVES”TO VARIOUS ANOMALIES
Anomaly Mesenchymal wave abnormality
1st 2nd 3rd
Posterior embryotoxon x
Axenfeld–Rieger syndrome x x
Peters’anomaly x x
Posterior keratoconus x
Sclerocornea x
which form the Krause–Kivlin syndrome (inheritance is autosomal reces-
sive). The Peters’-plus syndrome consists of Peters’ anomaly with syn-
dactyly, genitourinary anomalies, brachycephaly, central nervous system
anomalies, cardiac disease, or deafness.23,24
Peters’ anomaly also has
been reported as part of the fetal alcohol syndrome.25
Most interesting is
the finding of mutations at the PAX 6 locus on chromosome 11p13 in
some Peters’ anomaly patients.26
The PAX 6 gene appears to play a regu-
latory role in embryogenesis and also has been found to be abnormal in
aniridia and autosomal dominant keratitis.27
PAX 6 is normal, however,
in most patients with Peters’ anomaly.28
Increasing molecular evidence
has also been found with mutations in the CYP1B1 gene as a possible
causative role in Peters’ anomaly.29
This gene defect along with other
defects (such as in Axenfeld–Rieger, 4q25) have thus been implicated in
ocular development as well as glaucoma.30
Pathology
Pathology of Peters’ anomaly shows absence of Descemet’s membrane
and endothelium in the area of opacity initially (Fig. 4-3-8). As men-
tioned earlier, over time, the endothelial and Descemet’s membrane
defects are repaired by surrounding cells. Except for residual fibrosis in
the posterior stroma, the remainder of the cornea, except for a usually
absent central Bowman’s membrane, is normal.
Treatment and Outcome
Treatment of Peters’ anomaly includes treatment of the associated glau-
coma. Typically, penetrating keratoplasty is considered when corneal
opacification is bilateral. A recent study, however, examined results of
penetrating keratoplasty for unilateral corneal opacification in Peters’
anomaly.31
Of 14 eyes, 11 (78.6%) had clear grafts at 30 months’ follow-
up. Ten of 14 children gained seemingly useful vision after strict
amblyopia therapy. The Boston Keratoprosthesis has become an alter-
native to penetrating keratoplasty in children with Peters’ anomaly who
are at high risk for graft failure.22
Although visual outcomes often are
not ideal, the establishment of useful vision is worthwhile.32
SCLEROCORNEA
Sclerocornea refers to a non-progressive, non-inflammatory scleral-like
clouding of the cornea, which may be peripheral or diffuse. It results
from a disorder of the second wave mesenchyme migration and may be
associated with corneal flattening or cornea plana because of the par-
ticipation in the formation of the limbus. Peripheral forms need to be
differentiated from a congenital broad limbus or anterior embryotoxon.
Sclerocornea may be associated with other anomalies of anterior seg-
ment development, such as Peters’ anomaly; indeed, the entire anterior
segment developmental abnormalities discussed here may be consid-
ered part of a spectrum and often have many overlapping findings.
Glaucoma is common. Associations with systemic anomalies and
other ocular anomalies may occur, as noted earlier. Inheritance may be
Access the complete reference list online at
autosomal dominant, recessive, or X-linked. Most cases, however, are
sporadic and usually bilateral. Treatment consists of keratoplasty, or
most recently the Boston Keratoprosthesis, once the glaucoma has been
controlled. Outcomes are poor, usually because of the difficulty in con-
trolling glaucoma or secondary to optic nerve anomalies.
A review of the relationship of the embryonic neural crest migratory
waves to the anomalies discussed is given in Table 4-3-1.
KEY REFERENCES
Alward WL. Axenfeld–Rieger syndrome in the age of molecular genetics. Am J Ophthalmol
2000;130:107–15.
Churchill AJ, Booth AP, Anwar R, et al. PAX 6 is normal in most cases of Peters’anomaly.
Eye 1998;12:299–303.
Cook CS. Experimental models of anterior segment dysgenesis. Ophthalmic Pediatr Genet
1989;10:33–46.
Dana MR, Schaumberg DA, Moyes AL, et al. Corneal transplantation in children with Peters’
anomaly and mesenchymal dysgenesis. Multicenter Pediatric Keratoplasty Study.
Ophthalmology 1997;104:1580–6.
Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX 6 locus are found in heterogeneous
anterior segment malformations including Peters’anomaly. Nat Genet 1994;6:168–73.
Harissi-Dagher M, Colby K. Anterior segment dysgenesis: Peters anomaly and sclerocornea.
Int Ophthalmol Clin 2008;48:35–42.
Heon E, Barsoum-Homsy M, Cevrette L, et al. Peters’anomaly, the spectrum of associated ocular
malformations. Ophthalmic Pediatr Genet 1992;13:137–43.
Mader TH, Stulting D. Technique for the removal of limbal dermoids. Cornea 1998;17:66–7.
Mayer UM. Peters’anomaly and combination with other malformations. Ophthalmic Pediatr
Genet 1992;13:131–5.
Meire FM. Megalocornea, clinical and genetic aspects. Doc Ophthalmol 1994;87:1–1121.
Mejia LF, Acosta C, Santamaria JP. Clinical, surgical, and histopathologic characteristics of corneal
keloid. Cornea 2001;20:421–4.
Michaeli A, Markovich A, Rootman DS. Corneal transplants for the treatment of congenital
corneal opacities. J Pediatr Ophthalmol Strabismus 2005;42:34–44.
Miller MT, Epstein RJ, Sugar J, et al. Anterior segment anomalies associated with the fetal alcohol
syndrome. J Pediatr Ophthalmol Strabismus 1984;21:8–18.
Rezende RA, Uchoa UB, Uchoa R, et al. Congenital corneal opacities in a cornea referral practice.
Cornea 2004;23:565–70.
Shields MB, Buckley E, Klintworth GK, et al. Axenfeld–Rieger syndrome: a spectrum of
developmental disorders. Surv Ophthalmol 1985;29:387–409.

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Int Ophthalmol Clin 2008;48:35–42.
23. Heon E, Barsoum-Homsy M, Cevrette L, et al. Peters’anomaly, the spectrum of associated
ocular malformations. Ophthalmic Pediatr Genet 1992;13:137–43.
24. Mayer UM. Peters’anomaly and combination with other malformations. Ophthalmic Pediatr
Genet 1992;13:131–5.
25. Miller MT, Epstein RJ, Sugar J, et al. Anterior segment anomalies associated with the fetal
alcohol syndrome. J Pediatr Ophthalmol Strabismus 1984;21:8–18.
26. Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX 6 locus are found in
heterogeneous anterior segment malformations including Peters’anomaly. Nat Genet
1994;6:168–73.
27. Mirzayans F, Pearce WG, MacDonald IM, et al. Mutation of the PAX 6 gene in patients with
autosomal dominant keratitis. Am J Hum Genet 1995;57:539–48.
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Peters’anomaly be grafted? Eur J Ophthalmol 2011;21:695–9.
32. Dana MR, Schaumberg DA, Moyes AL, et al. Corneal transplantation in children with Peters’
anomaly and mesenchymal dysgenesis. Multicenter Pediatric Keratoplasty Study.
Ophthalmology 1997;104:1580–6.