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
