Literature DB >> 1115199

Familial bilateral optic nerve hypoplasia.

Y Hackenbruch, E Meerhoff, R Besio, H Cardoso.   

Abstract

Bilateral optic nerve hypoplasia affected five individuals corresponding to four generations of a family. Two decreased men were also apparently affected. The three patients studied, two women and a girl, presented the same clinical picture: poor visual acuity; small, pale and malformed papilla; two concentric peripapillary halos; and wandering movements of the eyes. Fluorescein angiography performed in the propositus mother showed a faint papillary fluorescence. At variance with the two familial cases reported, the pedigree clearly suggest an autosomal dominant type of inheritance. Similar clinical features found in other patients suggest a stationary nature of the defect.

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Year:  1975        PMID: 1115199     DOI: 10.1016/0002-9394(75)90088-4

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  14 in total

Review 1.  Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.

Authors:  Pamela Garcia-Filion; Mark Borchert
Journal:  Surv Ophthalmol       Date:  2013 Nov-Dec       Impact factor: 6.048

2.  Localising patterns of optic nerve hypoplasia--retina to occipital lobe.

Authors:  P Novakovic; D S Taylor; W F Hoyt
Journal:  Br J Ophthalmol       Date:  1988-03       Impact factor: 4.638

Review 3.  Optic nerve hypoplasia in children.

Authors:  S M Zeki; G N Dutton
Journal:  Br J Ophthalmol       Date:  1990-05       Impact factor: 4.638

4.  Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations.

Authors:  Pamela Garcia-Filion; Mark Borchert
Journal:  Curr Treat Options Neurol       Date:  2013-02       Impact factor: 3.598

5.  Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Authors:  Sing-Hui Lim; Elizabeth St Germain; Khanh-Nhat Tran-Viet; Sandra Staffieri; Meghan Marino; Pr Hélène Dollfus; Erica B Nading; Sue Crowe; Glen Gole; Yaumara Perdomo-Trujillo; Michael Haybittel; James Elder; Valérie Pelletier; Elias Traboulsi; David Mackey; Terri L Young
Journal:  Ophthalmic Genet       Date:  2013-06-26       Impact factor: 1.803

6.  Maternal anticonvulsants and optic nerve hypoplasia.

Authors:  C S Hoyt; F A Billson
Journal:  Br J Ophthalmol       Date:  1978-01       Impact factor: 4.638

7.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

Review 8.  Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

Authors:  T E Acers
Journal:  Trans Am Ophthalmol Soc       Date:  1981

9.  Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors.

Authors:  Pamela Garcia-Filion; Cassandra Fink; Mitchell E Geffner; Mark Borchert
Journal:  Acta Ophthalmol       Date:  2008-12-24       Impact factor: 3.761

10.  Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency.

Authors:  R Boor; R Rochels; B Walther; B Reitter
Journal:  Eur J Pediatr       Date:  1992-07       Impact factor: 3.183

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