RESUMO
Twenty-seven members of a family with dominantly inherited Charcot-Marie-Tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine. Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family. Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.
Assuntos
Doença de Charcot-Marie-Tooth/complicações , Oftalmopatias/etiologia , Atrofia Muscular/complicações , Pilocarpina/uso terapêutico , Pupila , Adulto , Doença de Charcot-Marie-Tooth/genética , Criança , Oftalmopatias/tratamento farmacológico , Oftalmopatias/genética , Feminino , Humanos , Masculino , Compostos de Metacolina , Pessoa de Meia-Idade , Linhagem , Pilocarpina/farmacologia , Pupila/efeitos dos fármacosRESUMO
A patient with diverse and protracted ocular involvement with leukemia is presented. The ocular symptoms, signs, and pathology of leukemia are reviewed. Infiltration of the vitreous by leukemic cells in the absence of hemorrhage is documented for the first time. It is emphasized that ocular involvement threatening vision may occur in leukemia despite complete hematologic and bone marrow remission. It is suggested that early radiotherapy may be useful in preventing visual loss.