Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers

被引:10
|
作者
Minnella, Angelo Maria [1 ,2 ]
Rissotto, Roberta [1 ,2 ]
Maceroni, Martina [1 ]
Romano, Angela [3 ]
Fasciani, Romina [2 ]
Luigetti, Marco [2 ,3 ]
Sabatelli, Mario [3 ,4 ]
Rizzo, Stanislao [1 ,2 ]
Falsini, Benedetto [1 ,2 ]
机构
[1] Univ Cattolica Sacro Cuore, Inst Ophthalmol, I-00168 Rome, Italy
[2] Fdn Policlin Univ A Gemelli IRCCS, I-00168 Rome, Italy
[3] Univ Cattolica Sacro Cuore, Inst Neurol, I-00168 Rome, Italy
[4] Ctr Clin NEMO Adulti, Sede Roma, I-00168 Rome, Italy
关键词
hereditary transthyretin amyloidosis (hATTR); transthyretin (TTR); corneal confocal microscopy (CCM); electroretinogram (ERG); Optical Coherence Tomography (OCT); ocular biomarkers; personalized medicine; CORNEAL CONFOCAL MICROSCOPY; LIVER-TRANSPLANTATION; PORTUGUESE PATIENTS; NEUROPATHY; DISEASE; IMPACT;
D O I
10.3390/genes12060927
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页数:12
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