[Selected aspects of pediatric ophthalmology for non-pediatric ophthalmologists. Part 2: The odd looking optic nerve head in infants].
This article describes the clinical presentation of the most common congenital optic disc findings: optic nerve hypoplasia, optic disc cupping and pediatric optic atrophy. Particular emphasis is placed on the often difficult question: is it a physiological variant or is it pathological? Do I need further investigations? Pragmatic clinical hints are given to enable ophthalmologists to recognize normal variants with greater certainty but also not to overlook congenital optic nerve pathologies. Congenital anomalies of the optic nerve (head) are more common than half a century ago. They can affect the visual development and thus the general infantile development to a large extent if presenting bilaterally. They can occur isolated, with other ocular pathologies and/or accompanied by systemic diseases or syndromes, such as septo-optic dysplasia, albinism, prematurity, small for gestational age birth, as well as due to toxic exposure during pregnancy (e.g. drugs, alcohol and maternal diabetes). In addition to clinical illustrations to distinguish between physiological variants and pathologies of the optic nerve head, the different diagnostic and therapeutic options depending on the age of presentation of the infant are outlined. The reader will obtain some guidelines for distinguishing congenital and acquired optic nerve pathologies. The focal point of the present paper is with infants aged 0-2 years where many diagnostic imaging and psychophysical techniques cannot be applied. Therefore, this age group is the most difficult to correctly discriminate between physiological and pathological findings and to decide whether further diagnostic and/or treatment steps are necessary.
Leitung der Sektion Kinder- und Neuroophthalmologie, Orthoptik & Low Vision, Augenklinik der Universitätsklinik des Saarlandes, Kirrbergerstr. 1, 66424, Homburg/Saar, Deutschland. kaesmann@albinismus.info
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Käsmann-Kellner
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Seitz
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009887:Ophthalmoscopy / Q000379:methods*; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000151:congenital / Q000473:pathology*