[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].

Title[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].
Publication TypeJournal Article
Year of Publication2010
AuthorsKramer S, Seitz B, Käsmann-Kellner B
JournalDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Volume107
Issue2
Pagination182-5
Date Published2010 Feb
ISSN1433-0423
KeywordsAbnormalities, Multiple, Child, Chromosome Mapping, Chromosomes, Human, Pair 8, Diagnosis, Differential, DNA Mutational Analysis, Eye Abnormalities, Facies, Humans, Male, Retinitis Pigmentosa, Syndrome
Abstract

An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal visual atrophyi, early childhood converging strabismusi with varying angle relationships, nystagmusi, light sensitivity and substantial visual deficits. Finally a Kabuki syndrome could be confirmed by human genetic investigations (8q22-23 triplication).

Alternate JournalOphthalmologe
Citation Key401