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Recessive Familial Spastic Paraplegia with Retinal Degeneration*

Published online by Cambridge University Press:  01 August 2014

W. Macrae ,
J. Stieffel  and
A.B. Todorov
W. Macrae
Affiliation:
Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J. Stieffel
Affiliation:
The Moses H. Cone Memorial Hospital, Greensboro, North Carolina, USA
A.B. Todorov*
Affiliation:
Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
*
Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Abstract

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A family is described in which spastic paraplegia and retinal degeneration were observed in 5 out of 11 sibs in one generation. All affected members of this family had the onset of bilateral ocular symptoms during the fourth to fifth decade. Visual impairment was slowly progressive and ranged from 20/25 to 20/100.

There was a macular and perimacular speckling with small, irregular, discrete spots and central pigment proliferation, at the level of the pigment epithelium. Fluorescein angiography revealed patches of proliferating retinal pigment epithelium blocking transmission of fluorescein, surrounded by a larger area of disruption of the retinal pigment epithelium giving a “window-effect” choroidal pattern. The right macula showed a nonspecific, nonfluorescent, reticular pattern.

The most likely explanation of the ocular findings was a retinal degeneration involving the retinal pigment epithelium and/or the chorio-capillaries. Extensive laboratory work was negative.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 249 - 252
Copyright
Copyright © The International Society for Twin Studies 1974

Footnotes

*

This work was supported in part by The Moses H. Cone Memorial Hospital Grant for Research.

Dr. A. Todorov was a post-doctoral fellow supported by training Grant No GM 00795 from the National Institute of General M:dical Sciences.

References

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