title: Congenital high myopia and central macular atrophy: a report of 3 families.
abstract: OBJECTIVE
  To report the clinical phenotype in a series of four children from three families with the rare association of high myopia, central macular atrophy, and normal full-field electroretinography (ERG).
  
  
  METHODS
  Four male patients were ascertained with reduced vision, nystagmus, and atrophy of the macula from early childhood. Patients underwent full ophthalmic examination, electrophysiological testing, and retinal imaging.
  
  
  RESULTS
  Minimum duration of follow-up was 8 years. At last review, visual acuity ranged from 0.22 to 1.20 logMAR (6/9.5-6/95 Snellen) at a mean age of 10.5 years (median 9.5 years, range 9-14 years). Refractive error ranged from a spherical equivalent of -7.40 D to -24.00 D. Three had convergent squint. Fundus examination and imaging demonstrated bilateral macular atrophy in all patients that varied from mild atrophy of the retinal pigment epithelium (RPE) to well-demarcated, punched-out atrophic lesions of retina, RPE, and choroid. Flash ERG was normal under photopic and scotopic conditions in all patients. Pattern ERG, performed in three patients, was consistent with mild to severe macular dysfunction. Progression of the area of atrophy was evident in one patient and of the myopia in two patients but all patients had stable visual acuity.
  
  
  CONCLUSIONS
  Patients with congenital high myopia and macular atrophy present in infancy with reduced visual acuity and nystagmus. The macular atrophic lesions vary in size and severity but electrophysiological testing is consistent with dysfunction confined to the macula. There was no deterioration in visual acuity over 8-10 years of monitoring.
authors.affiliation: 1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Hull
authors.affiliation: 1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Kalhoro
authors.affiliation: Department of Ophthalmology, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: J
authors.initials: J
authors.lastname: Marr
authors.affiliation: Department of Ophthalmology, Great Ormond Street Hospital, London, UK.
authors.forename: D A
authors.initials: DA
authors.lastname: Thompson
authors.affiliation: 1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK.
authors.forename: G E
authors.initials: GE
authors.lastname: Holder
authors.affiliation: 1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK.
authors.forename: A G
authors.initials: AG
authors.lastname: Robson
authors.affiliation: 1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK [3] Department of Ophthalmology, Great Ormond Street Hospital, London, UK [4] Department of Ophthalmology, University of California, San Francisco, CA, USA.
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D000293:Adolescent; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis*; D004596:Electroretinography; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D047728:Myopia, Degenerative / Q000151:congenital / Q000175:diagnosis*; D009759:Nystagmus, Pathologic / Q000175:diagnosis*; D010641:Phenotype; D010775:Photic Stimulation; D012160:Retina / Q000502:physiology; D035781:Siblings; D014786:Vision Disorders / Q000175:diagnosis; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields