Familial juvenile normal-tension glaucoma with anterior segment dysgenesis: a clinical report of a new phenotype.
J Glaucoma
; 22(6): 510-4, 2013 Aug.
Article
em En
| MEDLINE
| ID: mdl-22525125
ABSTRACT
PURPOSE:
To describe a new familial syndrome consisting of anterior segment dysgenesis, glaucomatous optic neuropathy, and intraocular pressure (IOP) in the normal range.DESIGN:
Observational case series.METHODS:
Subjects were available for examination from a 2-generation pedigree. Ophthalmic examination and photography, visual field examination, and optical coherence tomography of the peripapillary retinal nerve fiber layer were performed. In some subjects, medical work-up was performed.RESULTS:
Eight affected subjects were identified. All had signs of Axenfeld-like anterior segment dysgenesis, ranging from a single fine iris process to diffuse broad iris synechiae extending to a prominent posterior embryotoxon. Four of the 8 subjects had glaucoma-appearing optic nerve heads with corresponding visual field defects; in a fifth subject, glaucoma was suspected on the basis of optic nerve appearance, but the visual field was full. IOP was consistently in the low-teens to mid-teens except in 1 eye in which it was 22 mm Hg, the highest recorded pressure in all examined subjects.CONCLUSIONS:
A new phenotype is presented, characterized by IOP in the normal range, glaucomatous-appearing optic nerve cupping, and anterior segment dysgenesis. The suggested mode of inheritance is autosomal dominant with marked intrafamilial variability.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
/
Glaucoma de Baixa Tensão
/
Pressão Intraocular
/
Segmento Anterior do Olho
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Glaucoma
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Israel