Nl-Fr

View abstract

This abstract is assigned to session Poster session in O'Bistro
Presentation typeOB - poster
TitleMechanism of lens subluxation in Goltz syndrome
PurposeWith this case we want to enlighten the ophthalmic features in Goltz syndrome or Focal dermal hypoplasia.Goltz syndrome is a rare mesoectodermal disorder inherited by an X-linked dominant gene with abnormal ophthalmic features in 40% of the patients. Here we report a unique mechanism of lens subluxation.
MethodsWe present the case of a 4-year-old girl who presented at birth with the typical clinical features of Focal dermal hypoplasia. Diagnosis was confirmed by molecular analyses.
ResultsThe girl had mild facial dysmorphism with hypertelorism. There was a horizontal nystagmus with a moderate esotropia of the right eye. The best corrected visual acquity was 1/60 at both eyes. Slitlamp examination showed a bilateral iriscoloboma with an inferior lens subluxation due to stretched ciliary processes. In the fundus there was a chorioretinal coloboma involving the optic discs at both sides. Furthermore she had the typical linear dermal aplasie on the chest, hypoplasia of the nails, clinodactyly of the 5th finger of right hand, syndactyly of the 4th and 5th finger of the left hand and bilateral hypoplastic kidneys. Molecular analysis showed a missense mutation in the PORCN gen.
ConclusionLensluxation normally presents because of stretched or broken lens zonula. This case illustrates the unusual mechanism of lens subluxation due to stretched ciliary processes in a patient with Goltz syndrome
Author 1
Last nameKASMI
InitialsI
DepartmentUniversital hospital of Ghent, departement of ophthalmology
CityGhent
Author 2
Last nameDELBEKE
InitialsP
DepartmentUniversital hospital of Ghent, departement of ophthalmology
CityGhent
top ^