Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report.

Jain, RK; Willetts, G S

doi:10.1136/bjo.62.9.622

Cited by 17 publications

(7 citation statements)

References 14 publications

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“…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. 2, 3, 5, 6, 8 The first report of the use of SDOCT imaging in IP 11 in 2015 has tremendously increased our insight into structural abnormalities in the retina that are not visualized during a routine ophthalmic examination. However, little is known about the pathogenesis of these retinal anomalies.…”

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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“…Our patient shows all classical signs and symptoms of IP Bloch-Sulzberger which are described in the literature (tables 1-4): skin changes present at birth and changing from inflammatory signs to streaky hyperpigmentations, characteristic alterations of tooth structure, abnormalities of hair, slight asymmetry of stature, microcephaly and ocular changes [1,3,[6][7][8][9][10][11][12]15].…”

Section: Discussionmentioning

confidence: 99%

“…A further consistent finding are ab-normalities of peripheral retinal vessels with areas of nonperfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus) [1,[6][7][8][9][10][11][12].…”

Section: Classical Stages Of Skin Alterations In Ipmentioning

confidence: 99%

“…A further consistent finding are abnormalities of peripheral retinal vessels with areas of nonperfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary [6][7][8][9][10][11][12]. About 18% of patients with ocular involvement show a uni-ocular retrolenticular mass in early childhood which is clinically difficult to differentiate from retrolental fibroplasia and persistent hyperplastic primary vitreous [3,9,10].…”

Section: Introductionmentioning

confidence: 99%

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Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Käsmann‐Kellner

Jurin-Bunte²,

Ruprecht³

1998

Ophthalmologica

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Background: Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. Patient Presentation: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family’s close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. Discussion: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.

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“…1 Peripheral retinal fibrovascular changes may be progressive and ablation of the ischaemic retina may arrest the fibrovascular process which otherwise may lead to tractional retinal detachment. [8][9][10][11][12] Unrecognised, this may present as a retrolental mass. Histological examination of the posterior segment of such eyes shows nodular accumulations of macrophages containing melanin with overlying proliferation of the retinal pigment epithelium (RPE) 13 14 and foreign body giant cells.…”

mentioning

confidence: 99%

Novel corneal features in two males with incontinentia pigmenti

Mayer

2003

British Journal of Ophthalmology

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Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.

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Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report.

Cited by 17 publications

References 14 publications

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Assessment of the Retinal Structure in Children With Incontinentia Pigmenti

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Novel corneal features in two males with incontinentia pigmenti

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