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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Amyloid
2015 ; 22
(2
): 117-22
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Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers:
a review of 513 cases
#MMPMID26096568
Beirão JM
; Malheiro J
; Lemos C
; Beirão I
; Costa P
; Torres P
Amyloid
2015[]; 22
(2
): 117-22
PMID26096568
show ga
PURPOSE: Assessment of ocular involvement in transthyretin-related familial
amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients.
METHODS: We reviewed the medical records of 513 Portuguese FAP mutation carriers,
at the Ophthalmology Service, Centro Hospitalar do Porto, between 1 January 2008
and 31 January 2013. Abnormal conjunctiva vessels (ACV), Schirmer test, tear
break-up time (TBUT), amyloid deposition on the iris (DAI), scalloped iris,
amyloid deposition on the anterior capsule of the lens (DAL), vitreous
amyloidosis, retinal amyloid angiopathy and glaucoma were evaluated and
registered. RESULTS: Of the 513 carriers, 477 (93%) had clinical systemic disease
with a median duration of 9.3 (5.1-13.7) years and 247 were men. Of these, 343
(72%) had been liver transplanted, on median of 6.6 (3.3-10.8) years before
inclusion in this study. No ocular abnormalities were identified in the
asymptomatic carriers (7%). The abnormalities observed with decreasing frequency
were abnormal TBUT (379 patients, 79.5%, 751 eyes), abnormal Schirmer test (320
patients, 67%, 635 eyes), DAI (183 patients, 38.4%, 350 eyes), DAL (157 patients,
32.9%, 308 eyes), scalloped iris (133 patients, 27.9%, 238 eyes), glaucoma (97
patients, 20%, 165 eyes), vitreous amyloidosis (83 patients, 17.4%, 139 eyes),
ACV (68 patients, 14%, 136 eyes) and amyloidotic retinal angiopathy (21 patients,
4%, 32 eyes). Patients with abnormal Schirmer test (p?0.001), scalloped iris
(p?=?0.006) and vitreous amyloidosis (p?=?0.007) were significantly older than
the others. According to their age of onset of systemic disease, the patients
have been split into early-onset (<40 years old), intermediate-onset (40-50 years
old), late onset (>50 years old) and asymptomatic carriers. We observed a
statistically significant difference in the prevalence of ACV (p?=?0.045) and of
an abnormal Schirmer test (p?=?0.004) between groups. Transplanted patients have
a significantly higher prevalence of DAI (p?=?0.001), DAL (p?=?0.009) and
vitreous amyloidosis (p?=?0.025) than non-transplanted patients. Of the 165 eyes
with glaucoma, 92.1% had scalloped iris (p?0.001) and of 32 eyes with retinal
amyloidotic angiopathy, 68.8% had vitreous amyloidosis (p?0.001). All
prevalences increased with time of disease. The earliest ocular manifestations
were abnormal Schirmer test and abnormal TBUT (12% and 17% at 5 years of clinical
disease) and the least prevalent was retinal amyloid angiopathy (8% at 15 years
of clinical disease). CONCLUSION: Ocular disorders in FAP patients are common,
and their prevalence increases with disease duration. Prevalence is influenced by
several factors, such as the age at onset of FAP and liver transplantation.