Genetic and phenotypic heterogeneity in pattern dystrophy
نویسندگان
چکیده
منابع مشابه
Genetic and phenotypic heterogeneity in pattern dystrophy.
BACKGROUND The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. METHODS Families were ascertained and clinicall...
متن کاملSCIENTIFIC REPORT Genetic and phenotypic heterogeneity in pattern dystrophy
Background: The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. Methods: Families were ascertained and clinicall...
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Aarskog-Scott syndrome (AAS) is a rare developmental disorder which primarily affects males and has a relative prevalence of 1 in 25,000 in the general population. AAS patients usually present with developmental complications including short stature and facial, skeletal and urogenital anomalies. The spectrum of genotype-phenotype correlations in AAS is unclear and mutations of the FGD1 gene on ...
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There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected persons have atypical clinical features, namely prominent nuchal skin tags, a confetti pattern of hypopi...
متن کاملClinical and genetic heterogeneity in multifocal vitelliform dystrophy.
OBJECTIVE To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions. METHODS All patients and, if possible, affected family members underwent an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 gene were screened for mutations in th...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2005
ISSN: 0007-1161
DOI: 10.1136/bjo.2004.062695