Artifacts

Verdijk, Robert M.; Herwig‐Carl, Martina C.

doi:10.1007/978-3-030-36079-5_3

Cited by 1 publication

(1 citation statement)

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“…24,25 Haab striae exhibit tight coiling or thickening from healing over the ends that indicate a tissue reaction as evidence that they formed in a living eye. 26 In patient 1, there was clearly normal DM on 1 profile that stretched across most of the length of the specimen, with artifactual separation from the posterior cornea. In the other eye, segments of DM were present at the periphery and in the midperiphery; they were uniform in thickness with no coiling or deposition to suggest healing reactions.…”

Section: Discussionmentioning

confidence: 90%

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants

Franco,

Gagrani,

Scanga

et al. 2023

Cornea

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Purpose: The aim of this study is to describe the variable phenotype of congenital corneal opacities occurring in patients with biallelic CYP1B1 pathogenic variants. Methods: A retrospective chart review was conducted to identify patients with congenital corneal opacities and CYP1B1 pathogenic variants seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, anterior segment optical coherence tomography, histopathologic images, and details of genetic testing were reviewed. Results: Three children were identified. All presented with raised intraocular pressure. Two patients showed bilateral limbus-to-limbus avascular corneal opacification that did not resolve with intraocular pressure control; 1 showed unilateral avascular corneal opacity with a crescent of clear cornea, iridocorneal adhesions, iridolenticular adhesions, and classical features of congenital glaucoma in the fellow eye (enlarged corneal diameter, Haab striae, and clearing of the corneal clouding with appropriate intraocular pressure control). The first 2 patients were visually rehabilitated with penetrating keratoplasty. Histopathology revealed distinct features: a variably keratinized epithelium; a thick but discontinuous Bowman-like layer with areas of disruption and abnormal cellularity; Descemet membrane, when observed, showed reduced endothelial cells; and no pathological changes of Haab striae were identified. Two patients had compound heterozygous pathogenic variants in CYP1B1 causing premature stop codons, whereas 1 was homozygous for a pathogenic missense variant. Conclusions: Congenital corneal opacities seen in biallelic CYP1B1 pathogenic variants have a variable phenotype. One is that commonly termed as Peters anomaly type 1 (with iridocorneal adhesions, with or without iridolenticular adhesions) and the other is a limbus-to-limbus opacity, termed CYP1B1 cytopathy. Clinicians should be aware of this phenotypic variability.

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Section: Discussionmentioning

confidence: 90%