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Klin Monbl Augenheilkd 2013; 230(6): 582-586
DOI: 10.1055/s-0032-1328312
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Georg Thieme Verlag KG Stuttgart · New York

Hornhautdystrophie-(HD-)bedingte Schmerzen und Visusbeeinträchtigung im Kindesalter

Corneal Dystrophy (CD)-Induced Pain and Visual Impairment in Childhood
W. Lisch
Johannes Gutenberg Universität Mainz, Augenklinik, Mainz
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Publication History

eingereicht 09 January 2013

akzeptiert 17 January 2013

Publication Date:
21 June 2013 (online)

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Zusammenfassung

Zahlreiche Formen der 25 Hornhautdystrophien (HD) weisen bereits im Kindesalter beginnende, meist bilaterale dystrophiespezifische Hornhauttrübungen auf, die aber in diesem Stadium das Sehvermögen nicht oder nur wenig beeinträchtigen. Mit dem Beginn der Hornhauttrübungen können jedoch rezidivierende Epitheldefekte der Hornhaut auftreten, die immer mit starken Schmerzen, rotem Auge und Epiphora verbunden sind, z. B. nestartige Gitterlinien + Erosio bei der gittrigen HD. Meist treten diese attackenartigen, über mehrere Tage reichenden Beschwerden wechselseitig auf. Die Eltern kommen mit ihrem Kind wegen der anhaltenden Schmerzen zum Augenarzt. Meist bestehen am nicht schmerzhaften Partnerauge auch diskrete Hornhauttrübungen wie z. B. solche bei der gittrigen, granulären, makulären oder Reis-Bücklersʼschen HD, die den Augenarzt auf die richtige diagnostische Spur führen, nicht im Sinne einer entzündlichen, sondern dystrophischen Genese der beklagten Schmerzsymptomatik. Rezidivierende Hornhauterosionen im Kindesalter mit massiven Beschwerden treten auch bei einer anderen Gruppe von Hornhautdystrophien, wie z. B. bei der autosomal-dominant vererbten Franceschetti-Hornhautdystrophie, auf, ohne dass nach Abheilen der Erosion die geringsten Hornhauttrübungen festzustellen sind. Erst im Erwachsenenalter nehmen die Beschwerden ab, gleichzeitig treten jedoch visusreduzierende, diffuse, subepitheliale Hornhauttrübungen auf. Milchglasartige, beiderseitige Trübungen im Säuglingsalter können bei verschiedenen endothelialen Hornhautdystrophien beobachtet werden. Hier ist von entscheidender Bedeutung die diagnostische Abgrenzung gegenüber dem kongenitalen Glaukom. Grundsätzlich sollten beide Elternteile eines derartig betroffenen Säuglings an der Spaltlampe untersucht werden, um bei ihnen eventuell Trübungen im Sinne von mondkraterartigen Veränderungen des Hornhautendothels ein- oder auszuschließen.

Abstract

Many forms of the 25 corneal dystrophies (CD) manifest already in childhood with bilateral corneal opacities without any visual impairment in most cases. Pain attacks due to recurrent erosion with red eye and epiphora can occur in combination with the first dystrophy-specific corneal opacities, e.g., nest-like lattice lines + corneal erosion in lattice CD. Often we can observe a joint occurrence. The parents accompany their child to consult the ophthalmologist concerning the recurrent and joint pain attacks. The ophthalmologist can also diagnose in such a situation subtle corneal opacities on the painless, contralateral eye, e.g., those of lattice, granular, macular or Reis-Bücklers CD. The correct interpretation of this combination does not lead the ophthalmologist to an inflammatory-, but to a dystrophy-induced interpretation of this entity. In a further group of CD, e.g., in Franceschetti CD, the typical history of this entity is a dominant disorder with recurrent epithelial erosions starting in the first decade, declining in frequency and severity at a later age, and associated with a central, disk-like haze of the subepithelial cornea from middle age. The recurrent erosions in childhood lasted 3–5 days and were followed by complete recovery. Congenital corneal clouding in the form of a milky ground-glass appearance can be observed in the rare endothelial CD, such as in congenital hereditary endothelial dystrophy 1 and 2 (CHED 1 and 2), X-linked endothelial CD (XECD), and in posterior polymorphous CD (PPCD). The differential diagnosis for congenital glaucoma is of essential importance. The parents of babies with congenital corneal opacification should be examined at the slit-lamp to in- or exclude the appearance of mooncrater-like endothelial changes.

Abstract

Many forms of the 25 corneal dystrophies (CD) manifest already in childhood with bilateral corneal opacities without any visual impairment in most cases. Pain attacks due to recurrent erosion with red eye and epiphora can occur in combination with the first dystrophy-specific corneal opacities, e.g., nest-like lattice lines + corneal erosion in lattice CD. Often we can observe a joint occurrence. The parents accompany their child to consult the ophthalmologist concerning the recurrent and joint pain attacks. The ophthalmologist can also diagnose in such a situation subtle corneal opacities on the painless, contralateral eye, e.g., those of lattice, granular, macular or Reis-Bücklers CD. The correct interpretation of this combination does not lead the ophthalmologist to an inflammatory-, but to a dystrophy-induced interpretation of this entity. In a further group of CD, e.g., in Franceschetti CD, the typical history of this entity is a dominant disorder with recurrent epithelial erosions starting in the first decade, declining in frequency and severity at a later age, and associated with a central, disk-like haze of the subepithelial cornea from middle age. The recurrent erosions in childhood lasted 3–5 days and were followed by complete recovery. Congenital corneal clouding in the form of a milky ground-glass appearance can be observed in the rare endothelial CD, such as in congenital hereditary endothelial dystrophy 1 and 2 (CHED 1 and 2), X-linked endothelial CD (XECD), and in posterior polymorphous CD (PPCD). The differential diagnosis for congenital glaucoma is of essential importance. The parents of babies with congenital corneal opacification should be examined at the slit-lamp to in- or exclude the appearance of mooncrater-like endothelial changes.

Schlüsselwörter

rezidivierende Hornhauterosion - attackenartige - mehrtägige Schmerzsymptomatik - Erosion mit dystrophieinduzierten Frühtrübungen - Erosion ohne dystrophieinduzierte Frühtrübungen - milchglasartige Hornhauttrübung - DD kongenitales Glaukom

Key words

recurrent corneal erosion - attacks of pain lastening for days - erosion combined with dystrophy basic early opacities - erosion without dystrophy basic early opacities - milk glass appearance of the cornea - DD congenital glaucoma

Key words

recurrent corneal erosion - attacks of pain lastening for days - erosion combined with dystrophy basic early opacities - erosion without dystrophy basic early opacities - milk glass appearance of the cornea - DD congenital glaucoma