نتایج جستجو برای: incontinentia pigmenti
تعداد نتایج: 2047 فیلتر نتایج به سال:
CASE REPORT The ophthalmic examination and results of fluorescein angiography using Retcam II are described in a patient with Incontinentia Pigmenti (IP). DISCUSSION Angiography fluorescein is extremely valuable in detecting vascular lesions that were invisible with ordinary ophthalmoscopy. Retcam II allows documentation of these lesions which is very useful for diagnosis, treatment and follo...
A family is described in which incontinentia pigmenti (IP) is variably expressed in both sexes, compatible with either autosomal dominant or X linked dominant inheritance. This is the first reported instance of an affected male with a positive family history. Immunological studies of the proband showed no significant alteration of immune function. Cytogenetic investigations of the proband and h...
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 f...
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