Fabry disease: a survey of visual and ocular symptoms

Davey, Pinakin Gunvant

doi:10.2147/opth.s66748

Cited by 23 publications

(20 citation statements)

References 15 publications

(31 reference statements)

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“…The slightly worse BCVA in this cohort is most likely due to some discrete lens opacities and not to the cornea verticillata, which is regarded not to impair the visual acuity [15]. However, worse contrast sensitivity as well as glare problems by normal Snellen visual acuity (black letters on a white background) in Fabry patients was reported in the literature [16]. …”

Section: Discussionmentioning

confidence: 90%

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases

et al. 2017

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AimsTo investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods.Methods25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam. Statistical analysis was performed using linear mixed effect models and Spearman correlation coefficients. The concordance between tonometry methods was assessed using Bland-Altman analysis.ResultsThere was no relevant difference between study groups regarding median GAT, IOPg, IOPcc and CCT measurements. The limits of agreement between GAT and IOPcc/IOPg/palpatory IOP in MPS were: [-11.7 to 12.1mmHg], [-8.6 to 15.5 mmHg] and [- 5.4 to 10.1 mmHg] respectively. Limits of agreement were less wide in healthy subjects and Fabry patients. Palpatory IOP was higher in MPS than in healthy controls and Fabry patients. Corneal opacity correlated more strongly with GAT, IOPg, CH, CRF, CCT and corneal density in MPS (r = 0.4, 0.5, 0.5, 0.7, 0.6, 0.6 respectively) than in Fabry patients (r = 0.3, 0.2, -0.03, 0.1, 0.3, -0.2 respectively). In contrast, IOPcc revealed less correlation with corneal opacity than GAT in MPS (r = 0.2 vs. 0.4).ConclusionsORA and GAT render less comparable IOP-values in patients suffering from MPS-associated corneal opacity in comparison to Fabry and healthy controls. The IOP seems to be overestimated in opaque MPS-affected corneas. GAT, IOPg and biomechanical parameters of the cornea correlate more strongly with the corneal clouding than IOPcc in MPS patients.Trial RegistrationClinicalTrials.gov NCT01695161

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Section: Discussionmentioning

confidence: 90%

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases

et al. 2017

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“…Though, it should be noted that the presence of cornea verticillata was present in all 3 index cases, this is somewhat expected as it is the most common and early of ocular signs, seen in virtually all hemizygotes and in a majority (up to 70%) of heterozygotes [1,34]. While only 3 patients were identified through the extensive screening process of more than 2,500 individuals, the subsequent family screening was responsible for identifying 23 additional family members with pathological mutations.…”

Section: Discussionmentioning

confidence: 92%

Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening

Silva

Barreto

Reis

et al. 2016

Nephron

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Introduction: Fabry disease (FD) is a lysosomal storage disorder caused by enzyme α galactosidase A (α-Gal A) deficiency due to mutations in the galactosidase alpha (GLA) gene. It leads to damage several organs, such as the kidneys, due to progressive accumulation of glycosphingolipids. Objective: To estimate the prevalence of FD among male hemodialysis (HD) patients in a northern state of Brazil. Methods: Screening was performed using a dried blood spot on filter paper to identify patients with low α-Gal A enzyme activity (≤2.2 µmol/l/h). Those with low enzyme activity underwent genetic analysis of the GLA gene. Family screening was conducted in the index cases. Results: 2,583 male HD patients (age: 52 (18-91 years)) were screened. The α-Gal A assay identified 72 males (2.78%) with low enzyme activity. Genotyping identified 3 patients with GLA mutations: W204X, A368T, both previously reported; and C52F, a novel missense mutation. Only the patient with W204X mutation had classic FD. The prevalence rate was 0.12%. Family screening of the index cases identified 23 family members with the same mutations. Conclusions: The prevalence of FD amongst male HD patients found in the Northern of Brazil was low (0.12%). However, family screening of the 3 index cases identified family members at an early stage of the disease, which may benefit from earlier treatment.

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“…Additionally, ocular symptoms associated with CL have not been emphasised and have not been addressed in overall assessments of Fabry symptomology or quality of life 9 10. Dry eye symptoms were described in a survey examination of patients with FD 8. Symptoms of DES may be complicated by CL and corneal dysaesthesia resulting from small-fibre neuropathy in patients with FD 18…”

Section: Discussionmentioning

confidence: 99%

“…Other well-described ocular findings include tortuous conjunctival and retinal vessels, anterior ‘propeller’ and posterior sutural ‘Fabry’ cataracts 5–7. Ocular findings have been associated with eye dryness, visual disturbances and eye fatigue,8 but have not yet been shown to impact the overall quality of life for patients with FD 9 10…”

Section: Introductionmentioning

confidence: 99%