Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

LETTER TO THE EDITOR Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of thes...

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Sir, Autosomal dominant optic atrophy (DOA) is the most commonly diagnosed inherited optic neuropathy in clinical practice and the majority of patients harbour pathogenic mutations within the OPA1 gene (3q28-q29, OMIM 165500) (Yu-Wai-Man and Chinnery, 2013). OPA1 is a multifunctional protein located within the mitochondrial inner membrane and it regulates a number of critical cellular functions...

Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations

Sir, The current report by Carelli and colleagues is a timely contribution the literature on autosomal dominant optic atrophy (DOA) (Carelli et al., 2014). Similar to a recently published Letter to the Editor in Brain by Bonneau et al. (2014), they describe the intriguing association of a Behr-like phenotype in an Italian family harbouring presumed compound heterozygous OPA1 mutations. The majo...

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

BACKGROUND Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS We report here three patients: one boy showing an early-onset mitochondrial dis...