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 language | English |
|---|---|
| Journal | Molecular Vision |
| Volume | 20 |
| Pages (from-to) | 852–863 |
| Number of pages | 12 |
| ISSN | 1090-0535 |
| Publication status | Published - 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