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Clinicopathologic Reports, Case Reports, and Small Case Series
October 2002

Congenital Duplication of the Anterior Segment With Central Hamartomatous Plaque

Arch Ophthalmol. 2002;120(10):1377-1379. doi:

A child born of a full-term pregnancy had unilateral splitting of the anterior segment of the right eye associated with choristoma. No other craniofacial abnormalities were found. The globe was slightly increased in size but was normal in shape. The 2 corneas were separated by a choristoma. Pathological examination revealed splitting of the anterior segment with 2 corneas, 2 lenses, and 2 irides. Only 1 posterior segment was observed, including a hematic vitreous associated with a dysmorphic retina. As diplophthalmos, this congenital malformation may be induced by primary optic vesicle development disturbance.

Clinical History

A mature female infant was born at week 41 of gestation in December 1998 with a right eye malformation. The healthy mother, aged 34 years, had experienced only a fever during the first month of the pregnancy. Her 3 previous pregnancies were normal. There was no history of exposure to x-rays or drugs. Routine serologic test results were all negative. An ophthalmologic examination was performed 1 week later. A large, yellow-pink choristoma was localized in the middle of the eye, dividing the globe into a medial eye and a lateral eye (Figure 1). The lid apertures and eye mobility were normal. The cornea of the medial eye was hazy, but there was a noncolobomatous round iris. The cornea of the lateral eye was more transparent, and a noncolobomatous round iris with lens ectopia and cataract was detected. The fundus was not visible. Ultrasonography revealed 2 different lenses, with densification of the anterior vitreous, as seen by direct ophthalmoscopy. Only 1 optic nerve was present. After examination with the patient under general anesthesia, the choristoma was resected. Karyotype analysis was performed, and no anomalies were detected.

Figure 1.
Clinical appearance of the right
eye. Two distinct corneas are separated by a dermoid.

Clinical appearance of the right eye. Two distinct corneas are separated by a dermoid.

By age 6 months, the globe and the lids had increased in size. However, the child experienced ocular exposure. Both orbits were normal in size and shape as determined by computed tomography. Right-sided proptosis was noted, with increased globe size (right, 21 × 22 mm; left, 19.5 × 19.8 mm). A lateral tarsorrhaphy was therefore performed with the patient under general anesthesia.

When the child was 18 months old, she again experienced ocular exposure despite the previous lateral tarsorrhaphy. The palpebral apertures were large. Electrophysiologic features revealed no evoked potential in the right eye (data not shown). Enucleation was performed using a hydroxyapatite-polyglactin 910 [vicryl]–wrapped ball (FCI, Issy les-Moulineaux, France) of 18 mm; 6 months later, a lateral canthoplasty was performed to adjust the position of the lids.

Pathological Examination

On gross examination, the first lesion corresponding to the choristoma was flattened and discoid, measuring 7 × 5 × 1 mm. Under light microscopy, the surface was lined by a squamous, poorly keratinized epithelium, devoid of keratohyalin granules. No Bowman membrane could be found between this epithelium and the underlying connective tissue, which contained many capillaries and did not exhibit corneal lamellar organization. The whole lesion was referred to as a dermoid.

On macroscopic examination, the formalin-fixed eye measured 19 mm in diameter (Figure 2). The insertion sites of the 6 external eye muscles were normal. The 2 corneas each measured 7 mm across, and there remained a thin white band between them, corresponding to the base of the previously removed dermoid. Examination of a horizontal section disclosed anterior splitting of the anterior segment. There were 2 distinct 3-mm-diameter lenses. The vitreous was retracted, and the retina was almost completely detached. The space between the detached retina and the sclera was filled with a serous, xanthochromic liquid. The retina was still attached to the optic nerve head. Histologic examination disclosed the well-differentiated corneal epithelium, the Bowman membrane, the corneal stroma, and the posterior endothelium on both corneas. The Descemet membrane was normal in the lateral cornea but was irregularly thickened in the medial cornea. The remnant tissue between the corneas was similar to limbus, without the Bowman membrane. The 2 irides were atrophic, and there were histologic hallmarks consistent with a moderate white cataract. In both lenses, the posterior capsule was adherent to disorganized retinal tissue, which has been clinically called densification of the anterior vitreous (Figure 3). In this tissue, only 3 components of the normal retina could be recognized: the outer limiting membrane, the photoreceptor layer, and the outer nuclear layer. They were arranged in ribbons or tubes. "Rosettelike" tubes were empty and likely lined by outer granular layer cells. Other "pseudo-rosettelike" tubes had no lumen, the photoreceptor cells arranging around capillaries (Figure 4). There was 1 vitreous, and behind it was a dysmorphic retinalike tissue, situated in the first segment of the optic nerve, outside the uveal tract, and internal to the lamina cribrosa.

Figure 2.
Axial section of the right eye.
MAI indicates medial atrophic iris; LAI, lateral atrophic iris; LL, lateral
lens; ML, medial lens; DR, dysplastic retinal tissue; CB, ciliary body; HV,
hematic vitreous; ON, optic nerve; and R, retina (hematoxylin-eosin, original
magnification ×2.5).

Axial section of the right eye. MAI indicates medial atrophic iris; LAI, lateral atrophic iris; LL, lateral lens; ML, medial lens; DR, dysplastic retinal tissue; CB, ciliary body; HV, hematic vitreous; ON, optic nerve; and R, retina (hematoxylin-eosin, original magnification ×2.5).

Figure 3.
Close-up view of the anterior
segment. LAI indicates lateral atrophic iris; LL, lateral lens; ML, medial
lens; DR, dysplastic retinal tissue; and DB, dermoid base (hematoxylin-eosin,
original magnification ×25).

Close-up view of the anterior segment. LAI indicates lateral atrophic iris; LL, lateral lens; ML, medial lens; DR, dysplastic retinal tissue; and DB, dermoid base (hematoxylin-eosin, original magnification ×25).

Figure 4.
Close-up view of the dysplastic
retinal tissue. Cells are arranged in ribbons or tubes (hematoxylin-eosin,
original magnification ×100).

Close-up view of the dysplastic retinal tissue. Cells are arranged in ribbons or tubes (hematoxylin-eosin, original magnification ×100).

Comment

The eye is a complex structure that originates from primordial tissues derived from a variety of sources, including the wall of the diencephalon, the overlying surface ectoderm, and immigrating neural crest cells. Normal development of the eye depends inter alia on an ordered sequence of induction, so that growth, migration, and differentiation begin in the right place and at the right time and proceed in the right direction. Eye development occurs during the second week of gestation as 2 anterolateral, convex depressions of the neural plate, the optic grooves.1 They enlarge rapidly during the third or fourth week to form the primary optic vesicles. Throughout its development, the surface ectoderm and several layers of mesoderm form the future lens, cornea, stroma of the iris, and ciliary body structures of the anterior chamber filtration apparatus. Any disturbance in growth during this early period causes serious ocular anomalies. Defects arising later, after further differentiation of the eye has already been accomplished, usually cause less severe but more localized damage. Anophthalmia and congenital cystic eye, cyclopia, synophthalmia, or diplophthalmos are classified in major defects. Unilateral diplophthalmos is defined by 1 normal and 2 separate eyes from 2 anlagen in 2 orbits with 2 optic nerves, which differs from our case.2,3

We report herein the first case of congenital duplication of the anterior segment associated with a dermoid. Dermoids are tumorous growths on the exterior of the eye derived from tissue not usually present. They occur in 1 to 3 of 10 000 live births. Associated ocular abnormalities include scleral and corneal staphyloma, aniridia, congenital aphakia, cataract, and microphthalmia.46 Experimental studies have described septation of the anterior segment. In 1937, Perri7 removed an optic vesicle with its ectodermal coverage in Rana esculenta and Bufo vulgaris, turned it 180°, and reimplanted it. Almost regular double eyes were formed with doubling of lenses, but with just one posterior segment, as a septation of the optic vesicle, which differs from diplophthalmos.7 Experimental studies8,9 suggest that this congenital malformation may be induced by primary optic vesicle development disturbance. Hyperthermia during the first trimester of pregnancy can disrupt normal organogenesis or growth of the primary optic vesicle, and we surmise that this may have been the cause of the malformation noted in our case.8,9

We thank S. Defoort-Dhellemmes, MD, for providing the electrophysiologic feature and S. Manouvrier, MD, PhD, for pediatric examination.

Corresponding author: Frédéric Mouriaux, MD, Service d'ophtalmologie, Hôpital Schaffner, Route de la Bassée, 62307 Lens, France.

Reprints: Jean François Rouland, MD, Service d'ophtalmologie, Hôpital Huriez, 59037 Lille CEDEX, France.

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