Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

Bernard Puech, Arnaud Lacour, Giovanni Stevanin, Bruno G. Sautiere, David Devos, Christel Depienne, Elodie Denis, Emeline Mundwiller, Didier Ferriby, Patrick Vermersch, Sabine Defoort-Dhellemmes
Ophthalmology. 2011-03-01; 118(3): 564-573
DOI: 10.1016/j.ophtha.2010.07.024

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1. Ophthalmology. 2011 Mar;118(3):564-73. doi: 10.1016/j.ophtha.2010.07.024. Epub
2010 Oct 29.

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in
the SPG11 gene.

Puech B(1), Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, Denis E,
Mundwiller E, Ferriby D, Vermersch P, Defoort-Dhellemmes S.

Author information:
(1)Service d’Exploration de la Vision et Neuro-Ophtalmologie, Hôpital
Roger-Salengro, CHRU de Lille, Lille Cedex, France.

OBJECTIVE: Kjellin’s syndrome is a hereditary neuro-ophthalmologic syndrome. We
describe the clinical phenotypes of 7 patients, identifying the responsible
mutations for 4 of them. A 10-year ophthalmologic and neurologic follow-up of 5
patients allowed us to describe the disease’s characteristics, early symptoms and
progression, associated ocular signs, and retinal changes in carriers.
DESIGN: Retrospective clinical study and molecular genetics investigation.
PARTICIPANTS: The records of 7 patients with Kjellin’s syndrome were analyzed
METHODS: All patients underwent full neurologic and ophthalmologic examinations.
The neurologic examinations included assessments of initial symptoms,
intelligence quotient tests, psychologic tests, and either magnetic resonance
imaging or computed tomography. The ophthalmologic examinations included visual
acuity on an Early Treatment Diabetic Retinopathy Study chart, intraocular
pressure color vision assessment, slit-lamp and fundus examination, Goldmann
perimetry, fundus autofluorescence, optical coherence tomography and fluorescein
angiography, electro-oculography, electroretinography, and flash visual evoked
potentials. Direct sequencing of the SPG11 and SPG15 genes and gene-dosage
analysis for the former were performed for 4 of these index patients.
MAIN OUTCOME MEASURES: Identification of new mutations in the SPG11 gene,
validating its implication in Kjellin’s syndrome.
RESULTS: The first signs appear before the age of 10 years, with late verbal
development and difficulty running and walking. Life expectancy is between 30 and
40 years. The secondary ophthalmologic symptoms only moderately affect visual
acuity. In addition to the classic symptoms, 3 of the 7 patients displayed small
whitish lens opacities, and 3 neurologically unaffected parents (father or
mother), all heterozygous carriers, exhibited whitish retinal dots. All the
patients who were tested carried SPG11, not SPG15, mutations.
CONCLUSIONS: Neurologic signs of SPG11 mutations emerge in early infancy, with
walking and language difficulties. Onset of paraplegia occurs at the end of the
first decade or during the second decade. Retinal changes, an integral part of
SPG11 mutations in this series of patients, are only observed once the paraplegia
has become apparent.

Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc.
All rights reserved.

DOI: 10.1016/j.ophtha.2010.07.024
PMID: 21035867 [Indexed for MEDLINE]

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