Document Detail

Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy.
MedLine Citation:
PMID:  3789054     Owner:  NLM     Status:  MEDLINE    
We studied 12 patients from six unrelated families with a syndrome that has an autosomal recessive pattern of inheritance and can be diagnosed from clinical, histologic, and biochemical characteristics. The four major symptoms are congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy of voluntary muscles, and exercise-related lactic acidosis. The patients had bilateral and total cataract in the first weeks of life, underwent cataract surgery, and developed nystagmus and strabismus. Corrected visual acuity was lower than 20/40 in aphakic eyes. Patients were mentally normal, and at school age they visited a school for blind and visually impaired children. The majority of the patients developed axial myopia with myopic fundus changes; aphakic refraction usually was lower than 10.0 diopters after the first decade. The cardiac myopathy was progressive and the cause of premature death. Three of the 12 patients died in the neonatal period and six patients died in early adulthood.
J R Cruysberg; R C Sengers; A Pinckers; K Kubat; U J van Haelst
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of ophthalmology     Volume:  102     ISSN:  0002-9394     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  1986 Dec 
Date Detail:
Created Date:  1987-01-05     Completed Date:  1987-01-05     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  740-9     Citation Subset:  AIM; IM    
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MeSH Terms
Acidosis, Lactic / complications,  genetics
Cardiomyopathy, Hypertrophic / complications*,  genetics,  pathology,  radiography
Cataract / congenital*,  genetics,  physiopathology
Cataract Extraction
Infant, Newborn
Muscles / ultrastructure
Muscular Diseases / complications,  genetics,  pathology
Radiography, Thoracic
Vision, Ocular

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