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Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers.
- Source :
-
Genes [Genes (Basel)] 2021 Jun 18; Vol. 12 (6). Date of Electronic Publication: 2021 Jun 18. - Publication Year :
- 2021
-
Abstract
- Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological manifestations are due to both the hepatic and ocular production of mutated TTR. In this case series, we report the ocular manifestations of hATTR in eighteen eyes of nine consecutive patients. Corneal nerve abnormalities as well as morphological and functional changes in the retina were investigated. The study was a single-center, retrospective, observational, clinical case series. In all patients, corneal confocal microscopy (CCM), multimodal imaging of the retina, including fundus photography and Optical Coherence Tomography (OCT), as well as rod and cone electroretinography (ERG) were performed. Eight patients had active disease and one was an unaffected carrier. In all study eyes, corneal nerve plexa examined with CCM were poorly represented or absent. Mixed rod-cone and cone ERG b-wave amplitudes were reduced, and photopic b-wave responses were significantly delayed. Photopic Negative Response (PhNR) amplitude was significantly reduced, while PhNR latency was significantly augmented. In 13/18 eyes, vitreous opacities and abnormalities of vitreo-retinal interface were found. The current results highlight the presence of corneal nerve damage. Functional retinal abnormalities, detected by ERG, can be found even in the presence of minimal or absent structural retinal damage. These findings support the use of CCM and ERGs to detect early biomarkers for primary hATTR.
- Subjects :
- Aged
Aged, 80 and over
Amyloid Neuropathies, Familial diagnostic imaging
Amyloid Neuropathies, Familial genetics
Cornea diagnostic imaging
Electroretinography
Female
Humans
Male
Middle Aged
Peripheral Nerves diagnostic imaging
Peripheral Nerves pathology
Prealbumin genetics
Retina diagnostic imaging
Tomography, Optical Coherence
Amyloid Neuropathies, Familial pathology
Cornea pathology
Retina pathology
Subjects
Details
- Language :
- English
- ISSN :
- 2073-4425
- Volume :
- 12
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Genes
- Publication Type :
- Academic Journal
- Accession number :
- 34207092
- Full Text :
- https://doi.org/10.3390/genes12060927