Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.
Agnese Suppiej, Chiara Ceccato, Valentina Lonardi and 1 others
PMID 35644009WHAT IT FOUND
In infants with early-onset nystagmus but no obvious eye abnormality, sensory defects were the most common cause, followed by neurological disorders.
Idiopathic infantile nystagmus was the rarest subtype. Electrophysiology helped identify retinal and optic nerve issues that standard eye exams missed.
Key findings
01Sensory defect nystagmus was the most prevalent diagnosis in this cohort, accounting for 48% of cases, even though most infants had normal or non-specific fundus findings at initial examination.
02Neurological nystagmus and mixed neurological-sensory nystagmus together accounted for 30% of cases, often presenting with abnormal neurological exams or MRI findings despite the absence of overt eye disease.
03Idiopathic infantile nystagmus was the rarest subtype (22%), and diagnosis was one of exclusion requiring normal neurological, ophthalmological, and electrophysiological work-ups.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study was retrospective, meaning data availability varied and was not collected at standardized ages. Not all patients received the same diagnostic tests; for example, only 61% of the total cohort had genetic testing, and only 12% had OCT. The lack of standardized timing for tests and follow-ups precluded direct statistical comparisons between diagnostic groups. The study excluded infants with obvious eye abnormalities, so findings apply only to those with 'occult' or non-specific ocular signs.
Declared interests
The study was supported by non-U.S. government funding. No specific commercial conflicts of interest or sponsor involvement in design/analysis were detailed in the provided text.
The easy way to misread this
Do not assume a normal fundus examination rules out serious sensory or neurological causes. This study shows that nearly half of infants with 'normal' initial eye exams had underlying retinal or optic nerve disorders detected only by electrophysiology (ERG/VEP).