Subclinical photoreceptor disruption in response to severe head trauma.

نویسندگان

  • Kimberly E Stepien
  • Wanda M Martinez
  • Adam M Dubis
  • Robert F Cooper
  • Alfredo Dubra
  • Joseph Carroll
چکیده

associated ONH and retinal hypoplasia. A case of genetically proven muscle-eye-brain disease with ONH and peripheral retinal nonperfusion with secondary fibrovascular proliferation and retinal detachment was recently described. Our patient shares many similar features but had no evidence of a muscular dystrophy, with clinically absent hypotonia and a normal creatine kinase level. Additionally, a case of de Morsier syndrome with similar ocular findings of bilateral peripheral retinal nonperfusion and neovascularization with resultant retinal detachment was reported recently. We suggest that the abnormal neuronal development that led to lissencephaly resulted in optic nerve and retinal maldevelopment and subsequent associated retinal vascular maldevelopment. Tractional retinal detachment is an end stage of a process that starts with nonperfusion and progresses to ischemia and extraretinal fibrovascular proliferation in a variety of pediatric retinal diseases. Although the cause of neural maldevelopment in our patient remains elusive, her case supports the idea that patients with severe neuronal migration deficits should be evaluated for ONH and abnormal retinal vasculature development, even without evidence of a muscular dystrophy.

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عنوان ژورنال:
  • Archives of ophthalmology

دوره 130 3  شماره 

صفحات  -

تاریخ انتشار 2012