12/2/2016 Investigation of infantile onset Financial Disclosures nystagmus Anthony T Moore NONE Ophthalmology Department UCSF School of Medicine Infantile Nystagmus Infantile nystagmus early onset acquired • bilateral visual impairment • neurological disease • spasmus nutans • abnormal eye • congenital idiopathic motor • chiasmal disease examination nystagmus • normal eye examination Nystagmus is uncommon with higher visual pathway damage 1
12/2/2016 Infantile nystagmus: Key questions Assessment of • can the child see? visual responses • is there a family history of nystagmus? Observe • light sensitivity? • Visual attention • is the child neurologically normal? • is the eye examination normal? • Fixation shifts • early onset or acquired? • Is vision consistent • typical or atypical form? with a diagnosis of • neurologically localising form? CIMN or worse than • is this CIMN? this? Character of nystagmus Refraction Pendular or jerk? Symmetrical or High refractive asymmetrical? errors in:- Horizontal vertical or rotary? Albinism Continuos or discontinuos? Aniridia Varies in different gaze Retinal dystrophies positions? 2
12/2/2016 Nystagmus associated with systemic disorder Nystagmus associated with OCA1 OCA2 anatomical abnormality of eyes Always exclude iris translucency and X-linked ocular albinism examine mothers of male infants • reduced acuity • nystagmus • ocular signs of albinism • chiasmal misrouting • normal skin pigmentation Examine mothers of male infants with albinism 3
12/2/2016 X-linked ocular albinism: female heterozygotes F, 7 yrs. EDD 35661. Oculo-cutaneous albinism. VAR, VAL 6/24 Albino misrouting R eye Pattern appearance L eye R eye Flash VEPS useful in atypical ocular hypopigmentation Normal Albino L eye 4
12/2/2016 Subtle ocular abnormalities: optic nerve hypoplasia High index of suspician in infants with nystagmus and Optic nerve poor pupil responses hypoplasia Direct ophthalmoscopy Need for repeat ophthalmoscopy in infants with nystagmus Optic atrophy or Scleral Optic hypoplasia ? opening nerve Lebers amaurosis Infantile retinal dystrophies • infantile onset rod-cone dystrophy • Lebers amaurosis • AR inheritance • Rod monochromatism • poor vision from infancy • S-cone monochromatism • nystagmus • Congenital stationary night • high hyperopia blindness • variable fundus appearance • non-recordable ERG Needs ERG to confirm diagnosis 5
12/2/2016 F, 1.5 yrs. Leber congenital amaurosis Achromatopsia Photopic 30Hz DA • infantile onset • photophobia Rt eye • nystagmus • reduced acuity Lt eye • normal retinal ERG: appearance Peri-orbital • absent photopic ERG electrodes b- b- Normal • normal rod ERG a- a- (Courtesy of G.Holder) X-linked CSNB VAR 6/18; VAL 6/36 Cortical visual impairment and Nystagmus Courtesy Graham Holder Most children with CVI do not have nystagmus Exceptions are :- R Extensive brain injury L Cerebellar abnormality Ex preterm infants with PVL 6
12/2/2016 Congenital idiopathic motor Manifest latent nystagmus nystagmus • usually horizontal-all positions gaze • Associated with strabismus • may be head nodding or AHP – Esotropia and DVD • relatively good acuity • Horizontal • damps on convergence • Worse on covering one eye • normal pupil responses • Fast phase towards fixing • normal fundus examination eye • normal ERG • Usually sporadic but X-L and Ad forms exist Nystagmus diagnosis : key messages • Detailed history • Look for iris translucency • ERG in all cases with normal fundus • VEP if suspicion of mild albinism • MRI scan in:- – Acquired nystagmus – Neurologically localising forms (rare in infants) – Uniocular or atypical nystagmus • Keep diagnosis under review • Molecular genetic testing on horizon 7
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