THE AGE OF ONSET IN HEREDITARY OPTIC ATROPHY

Hereditary optic atrophy with onset in early childhood.

Hereditary Optic Atrophy with Dominant Transmission and Early Onset.

Childhood-onset Leber hereditary optic neuropathy.

BACKGROUND The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included i...

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

PURPOSE Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy. METHODS A cohort of 193 Chinese families with suspected hereditary optic neuropa...

The Hereditary Optic Atrophies

There are a number of hereditary conditions in which optic atrophy may be a feature. These include skeletal conditions such as cranio-stenosis, some of the phakomatoses, congenital glaucoma and so on. In these conditions the optic atrophy is the result of a fairly obvious mechanism such as optic nerve compression, the effects of intraocular pressure on circulation in the nerve head or optic atr...