Ocular anomalies in incontinentia pigmenti: Literature review and meta-analysis

Minić, Snežana; Obradović, Miljana; Kovačević, Igor; Trpinac, Dušan

doi:10.2298/sarh1008408m

Cited by 39 publications

(43 citation statements)

References 12 publications

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“…Carney 3 and Minic 12 summarized these findings in the world statistical report and a meta-analysis from 1906 to 2010. Reported eye manifestations of IP are diverse, and include amaurosis, strabismus and nystagmus, retinal anomalies such as retinal detachment, retinal vascular abnormalities (hemorrhage, neovascularization, avascularity of the retina), retinal pigment epithelium abnormalities and lens changes.…”

Section: Discussionmentioning

confidence: 99%

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Mangalesh

Chen

Tran-Viet

et al. 2017

Retina

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Purpose This report aims at expanding the current knowledge of retinal microanatomy in children with incontinentia pigmenti using hand-held spectral domain optical coherence tomography (SDOCT). Methods We reviewed OCT scans from seven children (4 weeks–13 years) obtained either in the clinic or during an examination under anesthesia. The scans were analyzed for anatomical changes in the outer and inner retina, by certified graders. Medical records were assessed for systemic findings. Results We observed abnormal retinal findings unilaterally in three children. We found inner and outer retinal thinning temporally in two participants. This thinning was present prior to and persisted after treatment. One child showed a distorted foveal contour and significant retinal thickening secondary to dense epiretinal membrane and vitreomacular traction. All other children had normal retinae. Conclusion Hand-held SDOCT imaging of the retina has brought to light additional retinal structural defects that were not previously reported or visualized via routine clinical ophthalmic examination including retinal photography. Despite a normal foveal structure and visual acuity, we identified inner and outer retinal thinning on SDOCT which may benefit from future functional assessment such as visual field testing.

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Section: Discussionmentioning

confidence: 99%

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Mangalesh

Chen

Tran-Viet

et al. 2017

Retina

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“…In the present analyses of literature data 101 (54.30%) of the IP patients had associated ocular anomalies. In extensive meta-analyses 37.44% (289/772) of IP patients with diagnosed eye anomalies were found [42]. The assumption that ocular anomalies increase the chance of CNS anomalies in IP patients [30] was made based on a very specific and relatively small sample.…”

Section: Discussionmentioning

confidence: 99%

“…To establish the possibility to include CNS anomalies as IP minor criteria, percentages of severe CNS anomalies and retinal anomalies in IP were compared. In our meta-analysis of eye anomalies in IP patients for the 1976–2010 period, 37.44% of IP patients with diagnosed eye anomalies were found [42]. Retinal anomalies were present in 17.52% of IP patients [42].…”

Section: Discussionmentioning

confidence: 99%

“…In our meta-analysis of eye anomalies in IP patients for the 1976–2010 period, 37.44% of IP patients with diagnosed eye anomalies were found [42]. Retinal anomalies were present in 17.52% of IP patients [42]. Based on collected and analyzed data it is obvious that the total percentage of IP patients with CNS (30.44%) and ocular anomalies (37.44%) [42] is similar, as is the percentage of IP patients with vision-threatening retinal (17.52%) [42] and severe CNS (18.86%) anomalies.…”

Section: Discussionmentioning

confidence: 99%

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Systematic review of central nervous system anomalies in incontinentia pigmenti

Minić

Trpinac

Obradović

2013

Orphanet J Rare Dis

106

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The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.

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“…It is characterized by abnormalities in teeth, hair, skin, eyes, and CNS and is usually lethal in males in utero. 107 However, several case reports of surviving males manifesting this disease has been reported. Conflicting reports exist regarding the severity of the disease in the surviving males and no consensus exists as to the mechanism of disease in males.…”

Section: Incontinentia Pigmentimentioning

confidence: 99%

Gender Specific Issues in Hereditary Ocular Disorders

Iragavarapu¹,

Gorin²

2014

Current Eye Research

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This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these patients.

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Ocular anomalies in incontinentia pigmenti: Literature review and meta-analysis

Cited by 39 publications

References 12 publications

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Systematic review of central nervous system anomalies in incontinentia pigmenti

Gender Specific Issues in Hereditary Ocular Disorders

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