X-linked retinoschisis in three females from the same family: A phenotype-genotype correlation

Purpose: To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males. Methods: Retrospective review of charts for females from a family with XLRS who underwent complete ophthalmologic examin...

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Autores:

Tipo de recurso:

Fecha de publicación:

2005

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/22931

Acceso en línea:

https://doi.org/10.1097/00006982-200501000-00010
https://repository.urosario.edu.co/handle/10336/22931

Palabra clave:

Adolescent
Adult
Child
Clinical article
Dendritic cell
Female
Gene mutation
Genetic analysis
Genetic counseling
Genetic screening
Genotype phenotype correlation
Homozygosity
Human
Intraocular pressure
Male
Multigene family
Retina macula degeneration
Retinoschisis
Retrospective study
Review
Sclera buckling procedure
Visual acuity
X chromosome linkage
X linked retinoschisis
Adolescent
Adult
Aged
Aged, 80 and over
Cataract
Cataract extraction
Child
Cryotherapy
Eye proteins
Female
Genotype
Humans
Intraocular pressure
Laser coagulation
Linkage (genetics)
Male
Middle aged
Pedigree
Phenotype
Retinal detachment
Retinoschisis
Retrospective studies
Scleral buckling
Visual acuity
Bilateral
Females
Fovea
Gene
Linkage analysis
Long-term follow-up
Periphery
Retinoschisis
X-linked
preschool
Child

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