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Peters anomaly

If the separation of the lens vesicle from the surface ectoderm does
not proceed normally, the child will be born with a whitish corneal scar
termed Peters anomaly (Fig. 7). The scar is usually central and avascular,
but eccentric or vascularized variants may occur. Usually, there are also
underlying iridocorneal adhesions. The lens may be anteriorly displaced
and cataractous. Peters Fig. 6. Axenfeld-Reiger syndrome. (A) Abnormal
pupil. (B) Redundant periumbilical skin. (C) Dental malformation. Fig. 7.
Central corneal opacity in Peters anomaly. (See also Color Plate 1.) 62
A.V. Levin / Pediatr Clin N Am 50 (2003) 5576 anomaly may occur in
isolation, as part of a wider ocular malformation (such as aniridia or
microphthalmia), or as part of a systemic syndrome called Peters plus
syndrome. A variety of malformations can occur in Peters plus syndrome,
including, but not limited to, skeletal dysplasia with short stature and
developmental delay. A variety of genetic defects have been associated
with Peters anomaly including the PAX6 gene and a gene for congenital
glaucoma, CYP1B1 [7]. Even when bilateral, however, Peters anomaly is
not usually heritable. Patients with Peters anomaly have a high risk for
developing glaucoma with or without surgery. This opacity is almost always
visually threatening, and surgery is indicated unless other ocular
malformations portend a grim prognosis. Surgical management by corneal
transplantation is complicated by the need to balance the desire to proceed
as early as possible to avoid the onset of irreversible amblyopia during the
critical first weeks of vision development with the advantages of delaying
surgery to obtain better grafting results [8]. Cataract or lens extraction may
be necessary as well. Some surgeons prefer to remove a large segment of
iris (sector iridectomy, optical iridectomy) to allow the child to see around
the corneal scar through the unaffected edges of the cornea. Other
congenital corneal opacities There are a wide variety of congenital corneal
opacities that are beyond the scope of this article. A cornea that is not clear
at birth requires urgent attention by an ophthalmologist. If the cornea also
appears large in size, one must be concerned about the presence of
congenital glaucoma. Primary abnormalities of the cornea include
congenital hereditary endothelial dystrophy (CHED) and congenital
hereditary stromal dystrophy (CHSD), both of which present as bilateral,
gray-white opacification as opposed to the more white, and often
vascularized, appearance of sclerocornea or corneal dermoid. Limbal
dermoids, most commonly seen in the oculo-auricular-vertebral spectrum,
appear as raised white masses that may have hairs emanating from their
surface (Fig. 8). Although limbal dermoids are not usually in the visual axis,
they can cause amblyopia by inducing astigmatism or ocular discomfort.
Surgical excision may be required. Congenital corneal haze may also be a
secondary phenomenon caused by an underlying systemic disorder such
as metabolic storage diseases (rarely presenting with significant corneal
haze at birth), cystinosis, congenital infection (eg, herpes simplex virus), or
by birth trauma or amniocentesis trauma. Forceps delivery can be
associated with a break in the inner corneal layer (Descemet membrane)
that can result in lost corneal clarity because of corneal edema. This
manifestation is almost always unilateral.



The Cornea
Second Edition
Edited by Herbert E. Kaufman, M.D.
Boyd Professor of Ophthalmology and Pharmacology and
Experimental Therapeutics; Head, Department of Ophthalmology,
and Director, LSU Eye Center, Louisiana State University Medical
Center School of Medicine, New Orleans
Bruce A. Barron, M.D.
Professor of Ophthalmology, LSU Eye Center, Louisiana State
University Medical Center School of Medicine, New Orleans
Marguerite B. McDonald, M.D., F.A.C.S.
Clinical Professor of Ophthalmology, Tulane University Medical
Center, New Orleans; Director, Refractive Surgery Center of the
South, Eye, Ear, Nose, and Throat Hospital, New Orleans
With a foreword by
Claes H. Dohlman, M.D., PH.D.
Professor and Chairman Emeritus, Department of Ophthalmology,
Harvard Medical School, Boston; Chief Emeritus, Department of
Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston

Peters' Anomaly Type I
Peters anomaly has acquired a long list of names through the years:
primary mesodermal dysgenesis of the cornea, congenital anterior
synechiae, posterior keratoconus, and anterior chamber cleavage
syndrome. Additionally, different authors have used the same term to label
different lesions, further confusing the subject. The clinical appearance of
Peters anomaly type I is a nebular opacity in the pupillary axis bordered
(but not covered) by one or more iris strands that cross the anterior
chamber from the iris collarette (Figure 16-10). In some cases, the iris
adhesions have broken off, and only microscopic examination shows their
presence as uveal fragments attached to the posterior surface of the
cornea. The lens is positioned normally and remains clear, although a
discrete anterior pyramidal cataract is occasionally present. Associated
anomalies include microcornea, sclerocornea, and infantile glaucoma. For
the most part, however, the lesion is an isolated one, and there are no
other ocular or systemic abnormalities. A familial pattern has been
recorded in some instances, but extensive pedigree studies are lacking.
Both sexes are affected, and unilateral involvement appears to
predominate. Histologic examination82 confirms an absence of Descemets
membrane and endothelium limited to the area of the opacity. On light
microscopy, the overlying stroma, Bowmans layer, and epithelium are
uninvolved. The pathogenesis of Peters anomaly type I is the subject of
speculation. In the absence of lenticular changes, it is impossible to invoke
a lenticular role, as proposed by Peters.83 Furthermore, the focal nature of
the defect and the normal differentiation of adjacent structures militate
against the idea of an arrest early in development, as proposed by Collins84
and Seefelder.85 Even Ballantyne,86 as far back as 1905, noted this and
maintained that the lesion must develop after full differentiation of the
anterior segment (40-mm stage, tenth week). The lesion must occur,
however, before Descemets membrane is well formed (70- to 90- mm
stage, fourth month). During development, the volume of the anterior
segment

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Figure 16-11
Presumed pathogenesis of Peters anomaly type I. (A) The size of the pupillary membrane i
n the fetal eye corresponds to the size of a Peters type I lesion in the adult eye.
(B) Apposition of the pupillary membrane to the cornea
(a) may cause the posterior corneal defect in Peters anomaly (b).

is such that the entire fetal anterior chamber would fit into the normal adult
pupillary diameter87 (Figure 16-11A). This area in the fetal anterior segment
is occupied by a well-defined vascular membrane that constitutes the
anterior hyaloid vascular plexus. The membrane remains prominent until
the 40-mm stage, when it begins slowly to involute. Anoxia and other
insults may induce increased vascular permeability, with serum
transudation and displacement of the membrane against the cornea,
damaging the endothelium and Descemets membrane (Figure 16-11B).
Although this type of accidental pathophysiologic event may explain the
sporadic cases, it is less reasonable to rely on this explanation for
genetically determined, primary lesions; the pathogenesis of the adhesion
of the pupillary membrane anlage to the developing endothelium remains
obscure.
Peters' Anomaly Type II
In Peters anomaly type II, in addition to the central corneal opacity
and iridocorneal synechiae, the lens is abnormal. The most characteristic
pattern of involvement presents the lens adherent to the posterior corneal
surface or at least firmly pressed against it. In other cases, only lens
fragments adhere to the cornea. In still others, the lens is in normal position
but is cataractous. The corneal opacity (and corresponding defect in
Descemets membrane and endothelium) shows consistent alignment
along the extent of the corneolenticular contact. Usually central in position,
the opaque area may be slightly eccentric if the pupil and related area of
lenticular apposition are eccentric as well. In contrast to Peters anomaly
type I, the opacity is denser, is most frequently bilateral, and usually is
accompanied by many ocular or systemic abnormalities.82 It appears that
multiple mechanisms may produce corneolenticular adhesion or contact
(Figure 16-12). Faulty separation of the lens vesicle from the surface
ectoderm was proposed by Peters83 in 1906. In many cases, however, the
lens assumes the abnormal position by being pushed forward instead of
failing to separate.82 Thus, in aniridia, the microspherophakic lens
commonly spontaneously dislocates anteriorly (Figure 16-12A). A similar
mechanism may play a role in cases associated with microphthalmos and
choroidal coloboma. Another group of cases in which corneolenticular
contact is common is characterized by microphthalmos and persistent
hyperplastic primary vitreous. Here, the lens may be pushed anteriorly into
a shallow anterior chamber by the retrolental tissue (Figure 16-12B). In
patients with trisomy 13.15, the entire globe suffers gross arrest and
aberration so

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Figure 16-12
Derivation of Peters anomaly type II by different pathogenetic mechanisms. (A) Microspher
ophakic lens dislocated anteriorly. (B) Retrolenticular tissue pushing the lens anteriorly.
(C) Faulty separation of the lens vesicle from the surface ectoderm.

that dysgenesis may play an additional role (Figure 16-12C). Kupfer and
Kayser-Kupfer88 suggested abnormal mesenchymal wave migration and
Kenyon81 coined the term mesenchymal dysgenesis to explain the
anomaly. Bahn et al89 proposed abnormal neural crest cell migration to
explain the occurrence of sclerocornea, as well as Peters, Axenfelds, and
Riegers anomalies. Certain hereditary cases of Peters anomaly type II
have indeed revealed other members of the family presenting with Riegers
anomaly in Robinow syndrome90 and displaying all four anomalies in the
pedigree described by Holmstrom et al.91 Hereditary syndromes featuring
Peters anomaly type II as the only anterior segment disturbance include
KrauseKivlin syndrome92,93 and Peters plus syndrome (Peters anomaly
plus short stature, brachymorphy, mental retardation, abnormal ears, and,
in some patients, cleft lip and palate).94 Familial transmission of the lesion
as a primary isolated anomaly has been rarely documented as an
autosomal recessive trait.95 In summary, Peters anomaly type II must be
seen as occurring both as the incidental result of mechanical events
precipitated by anomalies in adjacent tissues and as a primary lesion.
Either of these modes of derivation can, in turn, result from nongenetic and
genetic influences.