Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Lymphoma of the Lacrimal Gland - An International Multicenter Retrospective Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Young Adults With Anterior Ischemic Optic Neuropathy: A Multicenter Optic Disc Drusen Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Orbital Lymphoma - An International Multicenter Retrospective Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Cone photoreceptor density in the Copenhagen Child Cohort at age 16-17 years

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Retinal layer segmentation in rodent OCT images: Local intensity profiles & fully convolutional neural networks

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Daniel C Chung
  • Mette Bertelsen
  • Birgit Lorenz
  • Mark E Pennesi
  • Bart P Leroy
  • Christian P Hamel
  • Eric Pierce
  • Juliana Sallum
  • Michael Larsen
  • Knut Stieger
  • Markus Preising
  • Richard Weleber
  • Paul Yang
  • Emily Place
  • Emily Liu
  • Grace Schaefer
  • Julie DiStefano-Pappas
  • Okan U Elci
  • Sarah McCague
  • Jennifer A Wellman
  • Katherine A High
  • Kathleen Z Reape
Vis graf over relationer

PURPOSE: To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety of clinical diagnoses.

DESIGN: Global, multicenter, retrospective chart review.

METHODS: Study Population: Seventy individuals with biallelic RPE65 mutation-associated IRD.

PROCEDURES: Data were extracted from patient charts.

MEASUREMENTS: Visual acuity (VA), Goldmann visual field (GVF), optical coherence tomography, color vision testing, light sensitivity testing, and electroretinograms (retinal imaging and fundus photography were collected and analyzed when available).

RESULTS: VA decreased with age in a nonlinear, positive-acceleration relationship (P < .001). GVF decreased with age (P < .0001 for both V4e and III4e), with faster GVF decrease for III4e stimulus vs V4e (P = .0114, left eye; P = .0076, right eye). On average, a 1-year increase in age decreased III4e GVF by ∼25 sum total degrees in each eye while V4e GVF decreased by ∼37 sum total degrees in each eye, although individual variability was observed. A total of 78 clinical diagnoses and 56 unique RPE65 mutations were recorded, without discernible RPE65 mutation genotype/phenotype relationships.

CONCLUSIONS: The number of clinical diagnoses and lack of a consistent RPE65 mutation-to-phenotype correlation underscore the need for genetic testing. Significant relationships between age and worsening VA and GVF highlight the progressive loss of functional retina over time. These data may have implications for optimal timing of treatment for IRD attributable to biallelic RPE65 mutations.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Ophthalmology
Vol/bind199
Sider (fra-til)58-70
Antal sider13
ISSN0002-9394
DOI
StatusUdgivet - mar. 2019

Bibliografisk note

Copyright © 2018 Elsevier Inc. All rights reserved.

ID: 59235915