Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Br J Ophthalmol. 2014-02-12; 98(7): 889-893
DOI: 10.1136/bjophthalmol-2013-304527
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1. Br J Ophthalmol. 2014 Jul;98(7):889-93.
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain
iron accumulation.
Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H,
Salih MA.
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) refers to
genetically heterogenous paediatric neurodegenerative disorders characterised by
basal ganglia iron deposition. One major cause is recessive mutations in the
PLA2G6 gene. While strabismus and optic nerve pallor have been reported for
PLA2G6-related disease, the ophthalmic phenotype is not carefully defined. In
this study we characterise the ophthalmic phenotype of PLA2G6-related NBIA.
METHODS: Prospective cohort study.
RESULTS: The eight patients were 4-26 years old when examined. All had
progressive cognitive and motor regression first noted between 9 months and 6
years of age that typically first manifested as difficulty walking (ataxia).
Ophthalmic examination was sometimes limited by cognitive ability. Four of eight
had exotropia, 7/7 bilateral supraduction defect, 5/7 poor convergence, 6/8
saccadic pursuit, 4/8 saccadic intrusions that resembled square-wave jerks, and
8/8 bilateral optic nerve head pallor. All patients lacked Bell phenomenon.
CONCLUSIONS: Upgaze palsy, although not a previously reported finding, was
confirmed in all patients (except in one for whom assessment could not be
performed) and thus can be considered part of the phenotype in children and young
adults. Other frequent findings not previously highlighted were abnormal
convergence, saccadic pursuit, and saccadic intrusions. Optic nerve head pallor
and strabismus, previously reported findings in the disease, were found in 100%
and 50% of our cohort, respectively, and the strabismus in our series was always
exotropia. Taken together, these clinical findings may be helpful in
distinguishing PLA2G6-related neurodegeneration from the other major cause of
NBIA, recessive PANK2 mutations.
DOI: 10.1136/bjophthalmol-2013-304527
PMID: 24522175 [Indexed for MEDLINE]