May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Classic form of congenital fibrosis syndrome associated with mental retardation
Author Affiliations & Notes
  • K. Pollack
    Ophthalmology, Eye Clinic University Dresden, Dresden, Germany
  • M.F. Mueller–Holz
    Ophthalmology, University Eye Clinic Dresden, Dresden, Germany
  • L.E. Pillunat
    Ophthalmology, University Eye Clinic Dresden, Dresden, Germany
  • Footnotes
    Commercial Relationships  K. Pollack, None; M.F. Mueller–Holz, None; L.E. Pillunat, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 5019. doi:
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      K. Pollack, M.F. Mueller–Holz, L.E. Pillunat; Classic form of congenital fibrosis syndrome associated with mental retardation . Invest. Ophthalmol. Vis. Sci. 2004;45(13):5019.

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Abstract

Abstract: : Purpose: The classic form of congenital fibrosis of the extraocular muscles (CFEOM1) is characterized by bilateral ptosis and complete absence of ocular motility, downward fixation of both eyes and chin elevation. The aetiology of the CFEOM1 syndrome is a matter of controversy. The disease has an autosomal dominant pattern. Many authors have considered congenital ocular fibrosis syndrome a myopathy, others have found a neurogenic aetiology. No association with mental retardation or debility in a family was previously described. Methods: A women (44 years old), her brother (38 years old) and four of her eight children (all female, age 23, 13, 11 and 10 years) were examined. Results: All affected family members showed a complete loss of vertical ocular movement. A variable degree of ptosis was present. The horizontal movement differed from complete loss of motility to variable restriction of adduction and abduction. All have a chin elevation and a bilateral amblyopia. The Bell phenomenon was absent. A mitochondriatic myopathy was excluded by muscle biopsy. Cycloplegic refraction showed a myopic astigmatism in five subjects, a hyperopic astigmatism in one and anisometropia (3 D to 12 D) in four patients. Five family members got surgery for ptosis in the past. In the 11 year old girl a second intervention was performed. Unsatisfactory results were obtained with retroposition of the rectus inferior muscle, resection and preposition of rectus superior muscle and frontalis – suspension. All members showed a mental retardation up to debility. The neurologic–psychiatric examination showed a mild debility of the mother and her brother. The oldest daughter showed a severe reduction of intelligence in neuro–psychological test (HAWIE–R) and an epilepsy. In the remaining children a mental and psychomotoric retardation was found. Conclusions: The congenital ocular fibrosis syndrome can be associated with mental retardation. Our findings suggest, that congenital ocular fibrosis syndrome might be part of a general neurological dysfunction. The surgical results remained unsatisfactory.

Keywords: strabismus • eye movements • genetics 
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