Corneal Abnormalities Associated With Incontinentia Pigmenti

Ferreira, Rosane C.; Ferreira, Lisiane C.; Forstot, Lance; King, Robert A.

doi:10.1016/s0002-9394(14)70183-7

Cited by 15 publications

(6 citation statements)

References 4 publications

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“…Authors have reported turbine‐like epithelial keratitis in 1997 (Ferreira et al. ) and suggested IP should be considered as a possible diagnosis in any child with keratitis and photophobia. Bilateral swirling corneal lesions may be a typical characteristic of IP.…”

Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti‐associated ocular anomalies of paediatric incontinentia pigmenti patients in China

Peng

Zhang

Long³

et al. 2018

Acta Ophthalmologica

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Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti‐associated ocular anomalies of paediatric incontinentia pigmenti patients in China

Peng

Zhang

Long³

et al. 2018

Acta Ophthalmologica

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“…In approximately one-third of IP patients, it is associated with unilateral visual impairment which may progress to severe visual loss (Goldberg and Cutis 1993;Spallone 1987). Ocular abnormalities in IP include persistent hyperplastic primary vitreous (Fard and Goldberg 1998); retinal abnormalities (Goldberg and Cutis 1993;Carney 1976); optic nerve neovascularization (Shah et al 1997); corneal abnormalities (Ferreira et al 1997); strabismus, exudative chorioretinitis, vascular retinal lesions, cataract, and nystagmus (Smith and Bedrossian 1984). However, more than 90% of patients have normal vision.…”

Section: Introductionmentioning

confidence: 99%

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Shastry

2000

J Hum Genet

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Incontinentia pigmenti (IP) is a rare disorder which affects organs and tissues of ectodermal and mesodermal origin. It is characterized by swirled patterns of hyperpigmentation. In some cases, the condition is also associated with malformations of the teeth, nails, skeleton, hair, eyes, and the central nervous system. The disorder is inherited as an X-linked dominant trait and mostly affects females. However, there have been several cases of IP in males that survived to birth. While IP in females could be caused by a skewed pattern of X-inactivation, three mechanisms: namely, the half-chromatid hypothesis, unstable premutation, and a higher rate of de-novo germline mutations, have been proposed to explain the survival of affected male patients. Cytogenetic studies in several sporadic cases with signs similar to IP exhibited an X/autosomal translocation involving a breakpoint at Xp11, suggesting a gene locus on Xp11 (IP1). Linkage analysis of familial IP, on the other hand, has identified a second locus, in the Xq28 region (IP2). Molecular genetic analysis of two candidate genes located at Xp11 and Xq28, as well as the human homologue of the murine Str gene, failed to reveal any disease-causing mutations. Although heterozygous female mice deficient for the IKKγ / NEMO gene exhibited dermatopathy similar to that in human IP, studies of the gene in human IP have not yet been available. In an effort to isolate the genes causing IP, cosmid clones containing the translocation breakpoint located at Xp11 and the transcriptional map of the Xq28 region were constructed. These maps could be invaluable tools in the identification of genes in the near future.

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“…3 Descriptions of primary keratopathies, similar to that in our patient, include a ''vortex epithelial keratitis,'' with radial lines of epithelial microcysts staining with fluorescein in 2 patients, with 1 having ''midstromal mild haziness.'' 26 Another report detailed ''bilateral superficial minimal nonstaining corneal irregularity.'' 14 Holmström and Thorén 15 described 5 patients in whom superficial, subepithelial, linear, or rounded corneal opacities were seen on gross autopsy.…”

Section: Discussionmentioning

confidence: 99%

Corneal Abnormalities in Incontinentia Pigmenti

Selvadurai¹,

Salomão²,

Baratz³

2008

Cornea

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Histomorphologic evaluation of the surgical specimen showed abnormal changes restricted to the epithelium in our patient. The observed changes are suggestive of a primary abnormality of cell maturation, which results in degeneration, and apoptosis as the epithelial cells migrate upward. The rapid recurrence of keratopathy clearly indicates that supportive treatment of blurred vision and secondary superficial punctate keratopathy with artificial tears, punctal plugs, and bandage contact lens are more likely to be beneficial.

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Corneal Abnormalities Associated With Incontinentia Pigmenti

Cited by 15 publications

References 4 publications

Incontinentia pigmenti‐associated ocular anomalies of paediatric incontinentia pigmenti patients in China

Incontinentia pigmenti‐associated ocular anomalies of paediatric incontinentia pigmenti patients in China

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Corneal Abnormalities in Incontinentia Pigmenti

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