Clinical Features of Anterior Segment Dysgenesis Associated With Congenital Corneal Opacities

Shigeyasu, Chika; Yamada, Masakazu; Mizuno, Yoshinobu; Yamaguchi, Tadashi; Nishina, Sachiko; Azuma, Noriyuki

doi:10.1097/ico.0b013e31820cd2ab

Cited by 42 publications

(45 citation statements)

References 32 publications

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“…Later, the neural crest cells form a continuous layer extending from the cornea to the trabecular meshwork and onto the anterior surface of the iris becoming continuous with the pupillary membrane and tunica vasculosa lentis. Separation of the lens vesicle and the basement membrane of the surface ectoderm occurs . If any failure of these developmental stages occurs, the anterior chamber will not develop properly, resulting in ASD.…”

Section: Discussionmentioning

confidence: 99%

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Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

Hamoudi

Rudnick²,

Prause

et al. 2012

Veterinary Ophthalmology

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Two sibling snow leopards, a male and a female, with bilateral anterior segment dysgenesis (ASD), are reported. Both snow leopards also had colobomas of both upper eyelids. All eyes exhibited a central corneal opacity associated with a defect in posterior corneal stroma, endothelium and Descemet's membrane. Iris strands were present attached to the termination of Descemet's membrane and to the periphery of the posterior corneal defect. The iris was hypoplastic, and cataract was present in all four eyes. The left eye of the female was microphthalmic, with no trabecular meshwork and with persistent remnant of the hyaloid artery. The male had hydrocephalus and thus some of the features of Peters' plus syndrome (Peters' anomaly in addition to systemic malformations). The histological findings in the eyes of these snow leopard siblings are identical with those described in humans with Peters' anomaly.

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Section: Discussionmentioning

confidence: 99%

“…Dysgenesis of the aqueous drainage channels may be associated with developmental glaucoma. Failure of proper lens vesicle separation may result in a persistent keratolenticular adhesion …”

Section: Discussionmentioning

confidence: 99%

Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

Hamoudi

Rudnick²,

Prause

et al. 2012

Veterinary Ophthalmology

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“…Congenital anterior staphyloma is a rare unilateral or bilateral anomaly and may account for about 11% of congenital corneal opacities 2. The clinical findings include an enlarged, vascularized, ectatic cornea, with thinning and ectasia of the surrounding anterior segment structures.…”

Section: Discussionmentioning

confidence: 99%

“…In contrast, our patients presented at birth with severe anterior segment changes that remained stable and mild-to-moderate intraocular pressure elevations that appeared controlled with medications. In the differential diagnosis, the pathologies considered included severe primary congenital glaucoma with anterior segment dysgenesis and Peters anomaly 2. There seems to be considerable overlap in the clinical features between these clinical conditions 6.…”

Section: Discussionmentioning

confidence: 99%

Mutations of the CYP1B1 gene in congenital anterior staphylomas

Judaibi¹,

Abu-Amero²,

Morales³

et al. 2014

OPTH

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PurposeHere, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene.MethodsWe reviewed the medical records, including the genetic analysis.ResultsTwo unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)].ConclusionCYP1B1 gene mutation may be associated with congenital anterior staphylomas.

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“…This condition involves dysgenesis of the anterior segment of the eye and occurs more frequently than other conditions that cause anterior segment dysgenesis [2]. In Peters’ anomaly, opacity and edema are observed in the center of the cornea from birth, and anomalies are observed in both eyes in 67.2% of all cases [3].…”

Section: Introductionmentioning

confidence: 99%

Cataract Surgery for Tilted Lens in Peters' Anomaly Type 2

Nishide

Nakanishi

Hayakawa

et al. 2013

Case Rep Ophthalmol

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Background: Cases of cataract surgery without penetrating keratoplasty in patients with Peters' anomaly are very rare. We report a case of Peters' anomaly type 2 with tilted lens due to synechia between the lens and iris that was treated with cataract surgery without penetrating keratoplasty. Case Presentation: A 16-year-old girl had Peters' anomaly in both eyes. Corneal opacity was severe in the left eye due to high-grade dysgenesis of the anterior segment. In the right eye, corneal opacity had spread from the center of the cornea to the inferotemporal side, and there was synechia between the iris and corneal endothelium from the inferonasal side to the inferotemporal side. Opacity was observed in the anterior pole of the lens, and there was synechia between the anterior iris and the lens. Ultrasound biomicroscopy (UBM) revealed that the lens was tilted because of synechia. The tilted lens induced astigmatism, which reduced visual acuity to 20/250, in conjunction with a cataract. Cataract surgery was performed; the synechia between the lens capsule and the iris was severed, an intraocular lens was inserted, and the tilt was repaired. UBM was used postoperatively to confirm that the lens capsule synechia had been corrected and that the intraocular lens was not tilted. As a result, visual acuity improved to 20/100; glaucoma and expansion of corneal opacity were not observed. Conclusions: Severing of the synechia between the cataract and iris, during cataract surgery, in a patient with Peters' anomaly type 2 resulted in favorable postoperative visual acuity.

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Clinical Features of Anterior Segment Dysgenesis Associated With Congenital Corneal Opacities

Abstract: Anterior segment dysgenesis shows diverse clinical features, various severities of corneal opacities, and visual outcomes. Further understanding of the disease as an abnormality during embryogenesis and neural crest cell differentiations may be required.

Cited by 42 publications

References 32 publications

Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

Mutations of the CYP1B1 gene in congenital anterior staphylomas

Cataract Surgery for Tilted Lens in Peters' Anomaly Type 2

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