97th DOG Annual Meeting 1999

P464

MACULAR DYSTROPHY IN AUTOSOMAL RECESSIVE KJELLIN´S SYNDROME: PHENOCOPY OF STARGARDT'S DISEASE?

I. Eggers1, P. Haag2, F. Schütt1, F. G. Holz1

Various hereditary retinopathies are associated with extraocular signs. Rarely retinal changes occur concurrent with multiple neurologic abnormalities. Kjellin described an autosomal recessive syndrome with spastic paraplegia, mental retardation, amyotrophia and retinal degeneration (Kjellin K, Arch Neurol 1959). The latter was thought to resemble Stargardt's disease. Herein we describe phenotypic characteristics in a patient with Kjellin-Syndrome and contrast the findings with Stargardt's disease.

Case report: A 27-year old woman initially noticed trembling of her right hand. Subsequently, progressive paraspastic occurred. A mental retardation had not been noticed prior to examination, She denied any visual symptoms. Visual acuity was 20/25 in both eyes. Fundoscopy disclosed symmetric multiple uniform round yellowish lesions at the level of the retinal pigment epithelium. EOG and standard ERG were normal. Multifocal ERG showed subnormal responses in the macular area. Corresponding to the visible fundus lesions, an increased autofluorescence was noted (Scanning Laser Ophthalmoscopy, HRA). On fluorescein angiography blocked choroidal fluorescence was seen with a hyperfluorescent halo in the late phases. There was no diffuse blocked choroidal fluorescence ("dark choroid"). In late frames of the ICG-angiography there was a distinct hyperfluorescence in the center of the yellow lesions. In contrast to the ocular findings, there was a obvious progression of the neurologic signs during the review period of 15 months.

Conclusions: Although the phenotypic characteristics of the ocular findings resemble Stargardt's disease there are distinct differences including shape, demarcation and distribution of the yellowish RPE-lesions as well as angiographic signs. To prove genetic heterogeneity, moleculargenetic analysis has been initiated. Almost identical clinical presentation of the ocular changes in the few reports on Kjellin's syndrome do not suppport the view of coincidental neurologic and retinal findings. The abnormal gene product in Kjellin´s syndrome appears to cause progressive dysfunction in various neuronal tissues.

1Department of Ophthlamology and 2Department of Neurology, University of Heidelberg


Back