Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study was undertaken to study the long-term rate of recurrence of ptosis and other postoperative complications after frontalis suspension using banked irradiated fascia lata. One hundred thirty-two lids of 72 patients underwent frontalis suspension between 1980 and 1989. The preoperative diagnoses included severe congenital ptosis (83%), blepharophimosis (10%), third nerve palsy (4%), and chronic progressive external ophthalmoplegia (3%). The age at the time of surgery ranged from 5 months to 19 years, with an average of 3 years and 5 months. In 46 patients (64%), surgery was done before age 3 years. The follow-up time ranged from 6 to 15 years, with a mean and median of 10 years. Good to excellent lid height was achieved immediately after surgery in all but three patients. Recurrence of ptosis occurred in 20 cases (28%), and 28 lids (21%). The time to reoperation ranged from 1 to 7 years, with an average of 3 years. Sixteen patients (80%) with recurrence were younger than 3 years of age. Reaction to donor fascia lata occurred in only two patients (3%). Only one patient suffered from excessive exposure keratopathy and required revision of the sling. Banked fascia lata is easy to use and should be considered as an alternative suspensory material in children younger than 3 years of age with congenital ptosis. The long-term reoperation rate in this cohort of patients was higher than the 5% rate reported for autogenous fascia, but lower than that previously reported for banked fascia lata (50% at 8 years).
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PMID:Long-term results of frontalis suspension using irradiated, banked fascia lata. 961 4

The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that include POLG mutations, PEO1 mutations, OPA1 mutations and RRM2B mutations. In Kearns-Sayre syndrome, the spontaneous mitochondrial deletions vary from 1.3 to 8.0 kb subunits of the oxidative phosphorylation enzymes and several t-RNA genes are affected. Oculopharyngeal muscle dystrophy is both autosomal dominant and recessive form. Congenital fibrosis of extraocular muscles (CFEOM) 1 has mutations in KIF21A on chromosome 12 with TUBB3 mutation also being seen. CFEOM 2 is an autosomal recessive, genetically distinct entity with homozygous mutations in PHOX2A. CFEOM 3 is autosomal dominant heterozygous missense mutations in TUBB3. Most cases of Mobius syndrome are sporadic with familial cases being autosomal dominant, autosomal recessive or X-linked recessive inheritance. Genetic testing has shown abnormalities involving chromosome 1 and 13. Presynaptic congenital myasthenic syndrome is caused by ChAT (choline acetyltransferase) mutation. Two loci have been found for myotonic dystrophy (DM). DM1, which is associated with trinucleotide expansion on chromosome 19q13.3 and DM2 which is associated with CCTG tetranucleotide expansion at 3q21. Blepharophimosis is caused by mutations in the FOXL2 gene 49 located at chromosome 3q23. Lymphedema-distichiasis is an autosomal dominant disorder caused by mutations in the FOXC2 gene.
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PMID:Genetics of strabismus and lid diseases. 2762 84