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Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in theSPG11Gene

Authors
Journal
Ophthalmology
0161-6420
Publisher
Elsevier
Publication Date
Volume
118
Issue
3
Identifiers
DOI: 10.1016/j.ophtha.2010.07.024
Disciplines
  • Medicine
  • Psychology

Abstract

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 retrospectively. 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. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

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