Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.

[aniridia]

To investigate the feasibility of handheld (HH ) ultra-high -resolution spectral-domain optical coherence tomography (SD -OCT ) in young children with nystagmus , to determine its sensitivity and specificity in classifying foveal abnormalities , and to investigate its potential to determine the cause of infantile nystagmus with the use of foveal morphology .Prospective , case-control study .A total of 50 patients with nystagmus and 50 healthy control subjects (mean age , 3 .2 years ; range , 0 -8 years ).Each patient was scanned using HH SD -OCT (Bioptigen Inc ., Research Triangle Park , NC ) without sedation , and foveal morphology was classified into 1 of 4 categories : (1 ) typical foveal hypoplasia (predicting clinical diagnosis of albinism , PAX 6 mutations , or isolated foveal hypoplasia ); (2 ) atypical foveal hypoplasia (predicting achromatopsia ); (3 ) other foveal changes (corresponding to retinal dystrophies ); and (4 ) normal fovea (predicting idiopathic or manifest latent nystagmus ). An independent interpretation of the HH SD -OCT scans by masked examiners was performed , and the sensitivity and specificity of the predicted diagnosis were calculated .The success rate of image acquisition and sensitivity and specificity of the HH SD -OCT in classifying foveal abnormalities .In 94 % of examinations , HH SD -OCT was successful . Twenty -three patients had typical foveal hypoplasia (category 1 ). Of these patients , 21 were diagnosed with albinism and 2 were diagnosed with PAX 6 mutations . Five patients were classified as atypical (category 2 ) and diagnosed with achromatopsia . Six patients had other abnormal foveal morphology (category 3 ) and were diagnosed with retinal dystrophy . Sixteen patients had normal foveal morphology (category 4 ). Of these patients , 12 were diagnosed with idiopathic nystagmus and 4 were diagnosed with manifest latent nystagmus . Sensitivities of HH SD -OCT for classifying typical or atypical foveal hypoplasia , other abnormal foveal morphology , and normal morphology were 92 .8 %, 86 .7 %, 41 .1 %, and 88 .4 %, respectively , with specificities of 91 .4 %, 94 .8 %, 97 .7 % and 95 .1 %, respectively .We demonstrate excellent feasibility of HH SD -OCT in the diagnosis of conditions associated with infantile nystagmus . The HH SD -OCT classification of foveal abnormalities was highly sensitive and specific . This classification was used to determine the underlying cause of infantile nystagmus . Handheld SD -OCT in early childhood can facilitate focused investigations and earlier diagnosis . This is important in an era when potentially time-sensitive treatment , such as gene therapy , is imminent .

Diseases
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Diseases presenting "retinal dystrophies" symptom

aniridia

cohen syndrome

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