Optici Nerve Aplasia and Microphthalmos: A Case Report

Optic iinerve iiaplasia ii(ONA) iiis iia iirare iidevelopmental iianomaly iicharacterized iiby iithe iicongenital iiabsence iiof iithe iioptic iinerve, iicentral iiretinal iivessels, iiretinal iiganglion iicells iiand iioptic iinerve iifibers. iiONA iiis iimost iioften iiseen iiin iia iiunilaterally iimalformed iieye iiand iiseems iito iifall iiwithin iia iimalformation iicomplex iithat iiis iifundamentally iidistinct iifrom iioptic iinerve iihypoplasia, iialthough iinumerous iicase iireports iiin iithe iiophthalmic iiliterature iimisidentify iiaplasia iiand iidescribed iihypoplasia iiof iithe iioptic iinerve iiinstead. iiThere iiis iino iiracial iipredisposition iiand iimales iiand iifemales iiare iisimilarly iiaffected. iiUnilateral iiONA iiis iigenerally iiassociated iiwith iinormal iibrain iidevelopment iiwithout iievidence iiof iian iiinherited iifactor. iiFamily iihistory iiis iinot iiconsistent iiwith iiMendelian iiinheritance, iiand iiresults iiof iichromosome iiexams iiare iiwithin iinormal iiparameters.i iThis iiis iicontrasting iiwith iibilateral iioptic iinerve iiaplasia iicases iithat iiare iifar iimore iiuncommon iiand iiare iiusually iiaccompanied iiby iiother iicentral iinervous iisystem ii(CNS) iiderangements iiand iia iipossible iifamiliar iihistory ii.To iiour iiknowledge, iithe iilargest iiseries iiof iioptic iinerve iiaplasia iiwas iipublished iiby iiWeiter iiet iial., iiwho iidescribed ii11 iiunilateral iicases iiof iiONA iiand ii2 iiatypical iibilateral iicases iisuspected iito iibe iian iiextreme iiform iiof iihypoplasia iiof iithe iioptic iinerve ii[8]. iiIn iimost iicases iiof iiunilateral iiONA iithe iipatients iidisplay iiother iispectrum iiof iiocular iiabnormalities iion iithe iiaffected iieye, iiwith iithe iimostiicommoniibeingiimicrophthalmos.iI Histopathologic iistudies iiof ii25 iieyes iiwith iiONA iishowed iimicrophthalmia iiin ii20 iiof ii25 iieyes ii[5]. iiColobomas, iiand iianterior iior iiposterior iistaphylomas iiare iiadditionally iipresent iiin iithe iimajority iiof iieyes. iiOther iiclinical iifeatures iimay iibe iia iivestigial iidural iisheath; iiretinal iidysplasia iiand iiretinal iirosettes; iiretinal iidetachment; iiprimary iihyperplastic iipersistent iivitreous; iichoroidal, iiiris iior iiciliary iibody iihypoplasia; iimicrocornea, iimicrophakia, iicataract iiand iihypoplasia iiof iithe iicorneal iistroma ii[5,8]. iiEsotropia iiof iithe iiaffected iieye iiis iialso iicommonly iifound. iiCase iiReport iiOur iipatient iiwas iia iifemale iiinfant, iiborn iifrom iinonconsanguineous iiparents iiat ii39 iiweeks iiof iigestation iiwith iia iibirth iiweight iiof ii3360 iigr. iiHer iiparents’ iifamiliar iiand iiocular iihistory iiwas iinegative iifor iimalformations iiand iigenetic iidefects. iiThe iiinfant iiwas iithe iiproduct iiof iia iifull iiterm iipregnancy iiand iielective iicaesarean iisection ii(due iito iia iiprevious iianalogousiicaesareaniisection),iitheiineonatal iiperiod iiwas iiunremarkable. iiThe iigirl iiwas iireferred iito iithe iiophthalmologist iiat iithe iiage iiof ii42 iidays iibecause iiher iiparents iinoted iian unequal isizeiiofiitheiieyes.

Author(s): Cesare Forlini

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