Abstract
P 100
Nystagmus with ocular hypopigmentation, renal failure, developmental delay and mental retardation
Andrea Schild1, Julia Fricke1, Hanno Bolz2, Susanne Weigl2, Antje Neugebauer1
1Klinikum der Universität Köln, Zentrum für Augenheilkunde, Köln, 2Institut für Humangenetik, Klinikum der Universität Köln
Objective
In the literature coexistence of congenital fibrosis syndrome (CFEOM) and Joubert-Syndrome as well as coexistence of CFEOM and albinism in single patients is decribed. We now report the case of a 17-year-old girl with ocular hypopigmentation, renal failure and mental retardation.
Methods
Ophthalmological examinations were performed including electroretinography, furthermore pediatric and neuroradiologic examinations were carried out. Molecular genetic examinations were initiated.
Results
In this patient with mental retardation and developmental delay, the visual acuity was reduced to light perception. She showed a see-saw nystagmus, further an exodeviation of about -20° with normal ocular motility. Slit-lamp examination revealed a diffuse iris translumination, the retina showed only scarce pigmentation, the macula was hypoplastic. The visually evoked potentials showed low amplitudes, the latency was normal. Magnetic resonance imaging of the cerebrum revealed a cerebellar vermis aplasia. Due to renal failure in microcystic kidneys, renal transplantation became necessary.
Conclusions
report the coexistence of characteristics of Joubert-Syndrome and albinism in one patient. This is a new combination of the above mentioned disease patterns.
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