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Early‐onset Behr syndrome due to compound heterozygous mutations in OPA 1
Author(s) -
Bonneau D.,
Lenaers G.,
Procaccio V.,
AmatiBonneau P.,
Reynier P.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0128
Subject(s) - ataxia , compound heterozygosity , peripheral neuropathy , atrophy , medicine , optic neuropathy , cerebellar ataxia , myopathy , pathology , mutation , pediatrics , genetics , biology , endocrinology , optic nerve , ophthalmology , gene , psychiatry , diabetes mellitus
Summary Behr syndrome is an early‐onset and severe syndromic optic atrophy which is probably heterogeneous. Recently, a heterozygous mutation in OPA 1 was reported in an adult‐onset Behr‐like syndrome. Heterozygous mutations in OPA 1 are the main causes of autosomal dominant optic atrophy ( DOA ). As many as 20% of patients with DOA exhibit extra‐ocular signs including deafness, external ophthalmoplegia, ataxia, peripheral neuropathy and, myopathy. Aside from these autosomal dominant forms, only few syndromic cases have so far been linked to compound heterozygous OPA 1 mutations suggestive of either recessive or semi‐dominant inheritance. However, the clinical spectrum of these emerging double‐mutant OPA 1 ‐related disorders remains to be characterized. We report on four children affected with Behr syndrome associated with compound heterozygous OPA 1 mutations. These children were similarly affected with an early‐onset neurological syndrome associating a severe optic atrophy (4/4), cerebellar ataxia (4/4), peripheral neuropathy (4/4), digestive involvement (2/4) and deafness (1/4). This report confirms the importance of searching an OPA 1 compound heterozygosity in paediatric cases of syndromic optic neuropathy.