Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Karmen M. Trzupek, Rena E. Falk, Joseph L. Demer, Richard Weleber

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.

Original languageEnglish (US)
Pages (from-to)1218-1222
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number11
DOIs
StatePublished - Jun 1 2007

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Microcephaly
Mosaicism
Germ Cells
Siblings
Phenotype
Intellectual Disability
Retinal Dysplasia
Genetic Databases
Retinal Degeneration
Muscle Hypotonia
Lymphedema
Choroid
Retinal Detachment
Glaucoma
Cataract
Retina
Parents

Keywords

  • Chorioretinal dysplasia
  • Chorioretinopathy
  • Lymphedema
  • Microcephaly
  • Retinal dystrophy

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Microcephaly with chorioretinopathy in a brother-sister pair : Evidence for germ line mosaicism and further delineation of the ocular phenotype. / Trzupek, Karmen M.; Falk, Rena E.; Demer, Joseph L.; Weleber, Richard.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 11, 01.06.2007, p. 1218-1222.

Research output: Contribution to journalArticle

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