Abstract | PURPOSE: METHODS: Two affected siblings, both with a S163R missense mutation in the causative gene C1QTNF5, were followed for 8+ years. Color fundus photos, fundus autofluorescence images, near-infrared reflectance fundus images, and spectral domain optical coherence tomography scans were acquired during follow-up. RESULTS: Both patients, aged 45 and 50 years, had good visual acuities (>20/20) in the context of prolonged dark adaptation. Baseline color fundus photography demonstrated yellow-white, punctate lesions in the temporal macula that correlated with a reticular pattern on fundus autofluorescence and near-infrared reflectance imaging. Baseline spectral domain optical coherence tomography imaging revealed subretinal deposits that resemble reticular pseudodrusen described in age-related macular degeneration. During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial layer and disruption of the ellipsoid zone of photoreceptors before progressing to overt retinal pigment epithelium and outer retinal atrophy. CONCLUSION:
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Authors | Catherine Cukras, Jason Flamendorf, Wai T Wong, Radha Ayyagari, Denise Cunningham, Paul A Sieving |
Journal | Retina (Philadelphia, Pa.)
(Retina)
Vol. 36
Issue 12
Pg. 2348-2356
(Dec 2016)
ISSN: 1539-2864 [Electronic] United States |
PMID | 27388725
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Female
- Fluorescein Angiography
- Humans
- Middle Aged
- Multimodal Imaging
- Ophthalmoscopy
- Retinal Degeneration
(pathology)
- Retinal Pigment Epithelium
(pathology)
- Tomography, Optical Coherence
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