X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.
Br J Ophthalmol
; 85(1): 70-3, 2001 Jan.
Article
en En
| MEDLINE
| ID: mdl-11133715
AIMS: To characterise the inheritance of ptosis in one particular pedigree. METHODS: The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. RESULTS: Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family. CONCLUSION: A pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised-namely, X linked dominant congenital isolated bilateral ptosis.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Blefaroptosis
/
Ligamiento Genético
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Br J Ophthalmol
Año:
2001
Tipo del documento:
Article
Pais de publicación:
Reino Unido