title: Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
abstract: BACKGROUND
  Congenital central hypoventilation syndrome (CCHS) is a rare dysgenetic form of neurocristopathy associated with dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are reported in CCHS children, and range from pupillary and iris abnormalities to ptosis, strabismus and convergence deficiency. Since earlier CCHS diagnosis and multidisciplinary management, combined with improved ventilatory support techniques, the lifespan of children with CCHS has been considerably lengthened. The oldest of them have now reached adult age and we report in this study the results of their ophthalmologic examination.
  
  
  METHODS
  Nine CCHS adult patients were prospectively included during a 14-month period. Each patient underwent complete ophthalmologic examination, static pupillometry with scotopic and photopic pupillary diameter (PD) measures, Humphrey 24-2 visual field analysis, macular OCT and complete orthoptic assessment including a Hess-Lancaster test.
  
  
  RESULTS
  Ophthalmologic abnormalities were found in six of the nine patients (66%). The main features were strabismus in six patients (66%). Four patients (44%) displayed abnormal pupillary function, with a decrease in average scotopic PD (3.8 ± 1.4 mm), average photopic PD (3.5 ± 1.2 mm), and average percentage of pupillary constriction (7.6 ± 8.5%). Three patients (33%) exhibited iris abnormalities such as iris atrophy, smooth iris surface and atrophic sphincter.
  
  
  CONCLUSIONS
  This study allowed the description of ophthalmologic abnormalities occurring in CCHS in a series of adult patients, thus improving current knowledge of the disease. The prevalence of pupillary and iris lesions were lower than those observed in a series of children, suggesting that they could be considered as systemic disease severity markers.
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service d'Ophtalmologie, Centre de Référence en Maladies Rares, Département Hospitalo-universitaire Vision et Handicap , Paris , France .
authors.forename: Elise
authors.initials: E
authors.lastname: Boulanger-Scemama
authors.forename: Christine
authors.initials: C
authors.lastname: Fardeau
authors.forename: Christian
authors.initials: C
authors.lastname: Straus
authors.forename: Claude
authors.initials: C
authors.lastname: Simon
authors.forename: Valérie
authors.initials: V
authors.lastname: Touitou
authors.forename: Sara
authors.initials: S
authors.lastname: Touhami
authors.forename: Maryam
authors.initials: M
authors.lastname: Amini
authors.forename: Thomas
authors.initials: T
authors.lastname: Similowski
authors.forename: Phuc
authors.initials: P
authors.lastname: LeHoang
mesh_terms: D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis; D007499:Iris Diseases / Q000175:diagnosis*; D008297:Male; D011446:Prospective Studies; D011681:Pupil Disorders / Q000175:diagnosis*; D020182:Sleep Apnea, Central / Q000175:diagnosis*; D013285:Strabismus / Q000175:diagnosis*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult
keywords: Congenital central hypoventilation syndrome; dysgenetic neurocristopathy; ondine’s curse; pupillometry; strabismus