Dominant inheritance of optic pits

American Journal of Ophthalmology

Volumn 124, Issue 1, 1997, Pages 112-113

  Stefko, S T ^a   Campochiaro, P ^a   Wang, P ^a   Li, Y ^a   Zhu, D ^a   Traboulsi, E I ^a  

^a Rm 738 Wilmer Ophthalmological I   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; COLOBOMA; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; OPTIC NERVE DISEASE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0030843616     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(14)71656-3     Document Type: Article

References (5)

1. J Gass Serous detachment of the macula secondary to congenital pit of the optic nerve head Am J Ophthalmol 67 1969 821 841
2. P Babel H Farpour L'origine genetique des fossettes colobomateuses du nerf optique J Genet Hum 16 1967 187 198
3. D Veugelen A Leys Autosomal dominant heredity of optic pits: a report of two families Bull Soc Belge Ophtalmol 223 1987 75 81
4. P Sanyanusin L Schimmenti L McNoe Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux Nat Genet 9 1995 358 364
5. P Sanyanusin L McNoe M Sullivan R Grey Weaver M Eccles Mutation of PAX2 in two siblings with renal-coloboma syndrome Hum Mol Genet 4 1995 2183 2184