CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel

Oliva-Biénzobas, Valeria; Navas, Alejandro; Astiazarán, Mirena C; Chacón‐Camacho, Oscar F.; Bermudez-Magner, Jose Antonio; Takane, Mariana; Graue-Hernández, Enrique O; Zenteno, Juan Carlos

doi:10.1097/ico.0000000000001263

Cited by 2 publications

(2 citation statements)

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“…Because the outcomes of PK were poor in this report, they proposed that different pathogenic variants of CYP1B1 may have a distinct prognostic value. 6 Edward et al 2 also suggested that modifiers of the ocular phenotype can either mitigate or worsen the effects of CYP1B1 variants, thus explaining the co-occurrence of PCG, PA, and a normal ocular phenotype in relatives with homozygous CYP1B1 variants.…”

Section: Discussionmentioning

confidence: 99%

“…CYP1B1 has been also linked to a particular phenotype of CCO, described as “ CYP1B1 cytopathy.” 5,6 The term refers to a phenotype characterized by raised intraocular pressure (IOP) and limbus-to-limbus avascular corneal opacity, which do not resolve with glaucoma control. The histopathology was reported as showing central absence of Bowman layer, Descemet membrane, and endothelium, with no Haab striae.…”

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confidence: 99%

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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: 99%

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confidence: 99%