Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa

Jesper Bregnhøj, Sermed Al-Hamdani, Birgit Sander, Michael Larsen, Patrik Schatz

1 Citation (Scopus)

Abstract

PURPOSE: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with prolonged dark adaptation at 22 years of age.

METHODS: Clinical examination, kinetic Goldmann perimetry, dark adaptometry, fundus autofluorescence photography, spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG) were performed.

RESULTS: A female carrier of RPGR XLRP presented with a tapetal-like reflex at age 16. At age 22, the tapetal-like reflex was absent upon examination in daylight; however, the reflex reappeared after 12 h of dark adaptation. Fundus autofluorescence was unremarkable and did not change after prolonged dark adaptation. Full-field electroretinography and dark adaptometry at age 22 demonstrated reduced rod and cone function compared to at age 16.

CONCLUSIONS: Dark adaptation before fundus photography may enable the detection of a tapetal-like reflex where it is otherwise invisible. The light-dependent fluctuation of a disease-related substance in the photoreceptors should prompt further study of the potential role of light as a modulator of the progression of RPGR XLRP.

Original languageEnglish
JournalMolecular Vision
Volume20
Pages (from-to)852–863
Number of pages12
ISSN1090-0535
Publication statusPublished - 19 Jun 2014

Keywords

  • Child
  • Dark Adaptation
  • Electroretinography
  • Eye Proteins
  • Family
  • Female
  • Fundus Oculi
  • Genetic Diseases, X-Linked
  • Heterozygote
  • Humans
  • Male
  • Open Reading Frames
  • Pedigree
  • Reflex
  • Retinitis Pigmentosa
  • Tomography, Optical Coherence
  • Young Adult

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