Ocular Changes in the Bloch-Sulzberger Syndrome (Incontinentia Pigmenti)

Scott, James G.; Friedmann, A. I.; Chitters, M.; Pepler, W. J.

doi:10.1136/bjo.39.5.276

Cited by 45 publications

(18 citation statements)

References 21 publications

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“…Sometimes these have been relatively minor conditions such as strabism us or nystagmus but in the m ajority of cases they have been much more serious and have included a form of retrolental fibroplasia, pseudo-glioma formation, cataract, and optic atrophy [35]. In our patients no eye defects were found on routine clinical exam ination.…”

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confidence: 61%

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Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

Gordon

1970

Dermatology

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confidence: 61%

“…In 1955, from Johannesburg, Scolt el al. reported another W hite girl with inconti nentia piginenti; in addition she had a retinal detachm ent due to pseudoglioma formation [35]. In 1903, one of us (W .…”

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confidence: 99%

Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

Gordon

1970

Dermatology

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“…Previous studies have reported ocular manifestations in incontinentia pigmenti in 25-35% (Scott et al 1955;Carney 1976). The first was a review of 91 cases reported in the literature, and the second study was a meta-analysis of 455 patients in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…Several reports on selected groups of cases with ocular manifestations in incontinentia pigmenti have been published (Watzke et al 1976;Raab 1983;Eisenhaure et al 1985;Spallone 1987;Goldberg & Custis 1993) and also a few metaanalyses of the literature (Scott et al 1955;Carney 1976). The aims of the present study were to make an inventory of the disease in Sweden, to acquire better knowledge of it from the genetic, dental, neurological and ophthalmological points of view, to give information to the patients and their families, to promote creation of an association for patients with incontinentia pigmenti, and to suggest a programme for follow-up of these patients.…”

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confidence: 99%

Ocular manifestations of incontinentia pigmenti

Holmström

Thorén

2000

Acta Ophthalmologica Scandinavica

107

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ABSTRACT.Purpose: The study aimed to evaluate the ocular manifestations in patients with incontinentia pigmenti (IP). Methods: Thirty patients from different parts of Sweden participated. Orthoptic and ocular examinations were performed as well as evaluation of refraction and visual acuity. Results: Ocular manifestations, probably associated with IP, were found in 77% (23/30) of the patients. Thirteen had serious or vision-threatening eye manifestations in one eye, of whom 7 were totally blind in that eye from retinal detachments. Ten patients had minor retinal and/or corneal changes. Conclusion: Ocular lesions in patients with IP may be serious and lead to blindness because of retinal disease. Ophthalmological follow-up is essential in the neonatal period and such a programme is recommended.

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“…Retinal detachment usually occurs in very early childhood, thus leading to a secondary strabismus and retrolental mass formation [9][10][11][12]. The risk of older children to develop retinal detachment is small, as the course of the disease generally subsides [8,12,16]. In cases of pigmentary abnormalities one should perform routine examinations every 6 months combined with annual fluorescein angiographies.…”

Section: Classical Stages Of Skin Alterations In Ipmentioning

confidence: 99%

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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Ocular Changes in the Bloch-Sulzberger Syndrome (Incontinentia Pigmenti)

Cited by 45 publications

References 21 publications

Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

Ocular manifestations of incontinentia pigmenti

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

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