Cataract

Gene: IKBKG

I don't know

OMIM 308300 indicates that cataract is part of the phenotype for incontinentia pigmenti. Gene Reviews also indicates that cataract is part of the phenotype (reviewed in PMID 22564885). From a French study, 1 individual of 47 children had cataracts as part of their ocular phenotype (PMID 12975158). Cataracts were found in a single patient from Serbia (PMID 20499493) and several Swedish patients (PMID 10893071). An international patient-completed survey of adults with incontinentia pigmenti noted vision loss in 18/99 which was due in some cases to cataracts, but did not provide further details; not all patients had molecular confirmation of their diagnosis. Note that molecular confirmation was not performed as part of any of these studies.

Created: 6 Apr 2020, 2:18 a.m. | Last Modified: 6 Apr 2020, 2:18 a.m.

Panel Version: 0.60

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Incontinentia pigmenti (308300); / Ectodermal dysplasia and immunodeficiency 1 (300291); Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301); Immunodeficiency 33 (300636); Immunodeficiency, isolated (300584); Invasive pneumococcal disease, recurrent isolated 2 (300640)

Publications

• PMID: 22564885 (review)
• 12975158
• 20499493
• 10893071