title: Corneal endothelial dysfunction in Pearson syndrome.
abstract: Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.
authors.affiliation: Department of Ophthalmology, Southport and Ormskirk Hospital NHS Trust, Southport, UK.
authors.forename: Shivani A
authors.initials: SA
authors.lastname: Kasbekar
authors.forename: Jose A
authors.initials: JA
authors.lastname: Gonzalez-Martin
authors.forename: Ayad E
authors.initials: AE
authors.lastname: Shafiq
authors.forename: Arvind
authors.initials: A
authors.lastname: Chandna
authors.forename: Colin E
authors.initials: CE
authors.lastname: Willoughby
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency / Q000235:genetics; D001763:Blepharoptosis / Q000175:diagnosis / Q000209:etiology; D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D015715:Corneal Edema / Q000175:diagnosis / Q000209:etiology*; D004272:DNA, Mitochondrial / Q000235:genetics; D004728:Endothelium, Corneal / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain