Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy

Wasielica‐Poslednik, Joanna; Pfeiffer, Norbert; Reinke, Jörg; Pitz, Susanne

doi:10.1007/s00417-011-1726-5

Cited by 29 publications

(27 citation statements)

References 16 publications

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“…Cornea verticillata is the outcome of deposits of GB3 in the basal layer of the corneal epithelium 5. Cornea verticillata is visible through a slit lamp, and an in vivo confocal microscope study has shown that even when cornea verticillata is not visible through a slit lamp, there are intracellular inclusion bodies in the basal epithelial cells 6. A smaller number of patients have subtle lenticular deposits, which are known as Fabry cataracts 7.…”

Section: Introductionmentioning

confidence: 99%

Fabry disease: a survey of visual and ocular symptoms

Davey¹

2014

OPTH

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PurposeTo evaluate a visual symptoms survey on patients with a known diagnosis of Fabry disease, and to compare the scores to those from a group of healthy subjects.Materials and methodsAn ocular symptom survey instrument was used to evaluate the symptoms of general ocular problems like itching, tearing, dryness, burning sensation, sensation of foreign body, difficulty in scotopic and photopic vision, and asthenopic symptoms. The survey instrument was administered to 95 participants (75 patients with Fabry disease and 20 healthy controls; median age: 32.5 years [standard deviation: 19.1 years] and 42.6 years [standard deviation: 14.7 years], respectively). A Mann–Whitney test was performed to evaluate the difference between the Fabry group and the healthy controls for each symptom survey severity score. A P-value <0.05 was considered significant.ResultsOf the survey instrument items, it was found that compared to the control group, the mean severity score of the Fabry disease group was significant for “dryness” of the eyes (P=0.02), “blurry/dim vision” (P=0.02), “hard to see in dark places” (P=0.01), and “halos around light” (P=0.01). The Fabry group also had a mean severity score for “soreness/tiredness” that was significantly higher than that of the control group (P=0.009).ConclusionThe patients with Fabry disease may be suffering from ocular and visual symptoms related to manifestations of the disease. Further quantitative testing is needed to investigate the ocular and visual symptoms.

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Section: Introductionmentioning

confidence: 99%

Fabry disease: a survey of visual and ocular symptoms

Davey¹

2014

OPTH

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“…Yarıklı lamba biyomikroskopisi ile ayırıcı tanılarının yapılması mümkün değildir. 5,11,14,15 Cavanagh ve ark. 16 insan korneasının konfokal mikroskopi bulgularını ilk defa 1993 yılında yayınlamışlardır.…”

Section: Discussionunclassified

“…O zamandan beri amiodaron keratopatisinin daha ayrıntılı irdelenmesi ve olası diğer nedenlerden ayrımını yapabilecek bulguların tespit edilebilmesi için konfokal tarayıcı mikroskop kullanımı yaygınlaşmıştır. 10,11,[14][15][16] Konfokal mikroskopik incelemede; amiodaron keratopatisindeki depozitlerin Fabry hastalığındaki sifingolipid birikimlerinden farklı olarak daha yüksek yansıtıcılıkta olduğu, boyutlarının değişkenlik gösterdiği ve bunun yanı sıra daha az organize bir patern sergiledikleri bildirilmektedir. Ayrıca amiodaron keratopatisinde subepitelyal sinir tabakalarında ve endotel tabakasında da birikimler izlenebilirken Fabry hastalığında izlenmemektedir.…”

Section: Discussionunclassified

Correlation of Biomicroscopic Findings with Confocal Microscopy in Eyes with Amiodarone-Induced Cornea Verticillata

Kaya¹,

Yılmaz²,

Onay³

et al. 2014

tjo

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Amaç: Amiodarona bağlı kornea vertisillata gelişen gözlerde biyomikroskopi ve konfokal mikroskopi bulgularının korelasyonunu araştırmak. Gereç ve Yöntem: Amiodaron kullanımına bağlı kornea vertisillata saptanan sekiz hastanın 16 gözü değerlendirildi. Keratopati izlenen gözler Orlando'nun yarıklı lamba biyomikroskopi sınıflaması ile evrelendirildi. Konfokal laser-tarayıcı mikroskopi HRT II [Heidelberg Engineering GmbH, Heidelberg, Germany] cihazına eklenmiş Rostock kornea modülü kullanılarak uygulandı ve evrelendirme Falke'nin epitelyal hücrelerdeki birikim miktarına dayalı sınıflamasına göre yapıldı. Biyomikroskopik evrelendirme ve konfokal mikroskopide saptanan korneal tutulum özellikleri arasındaki ilişki Spearman korelasyon analizi ile değerlendirildi. Bulgular: Çalışmaya alınan 8 (5 erkek, 3 kadın) hastanın yaş ortalaması 63,1±7,2 (50-69) yıl idi. Hastaların ortalama ilaç kullanım süreleri 12,1±11,8 (3-36) ay ve ilaç kullanım dozları 312,5±223,2 (100-800) mg/gün olarak saptandı. Muayene esnasında hastaların %50'si ortalama 29,5±15,8 (6-40) ay önce ilaç kullanımını kesmiş iken, diğer %50'si halen ilaç kulanmaktaydı. Konfokal mikroskopide bazal epitel, ön, orta ve derin stroma ve endotelde yüksek yansıtıcılıklı depozitler görüldü. Biyomikroskopik evre ile konfokal mikroskopik evre birbiri ile korele bulundu (r=0,770, p<0,001). Stroma ve endotelde depozit görülme sıklığının biyomikroskopik evre arttıkça artmakta olduğu saptandı (sırasıyla r=0,844; p<0,001 ve r=0,551; p<0,01). Sonuç: Amiodarona bağlı gelişen kornea vertisillata olgularında, biyomikroskopik ile konfokal mikroskopik evrelendirme birbiri ile korele sonuçlar vermektedir. Bu nedenle, amiodarona bağlı gelişen kornea vertisillatalı gözlerde biyomikroskopik evrelendirme, konfokal mikroskopik değerlendirme olanağı bulunmayan kliniklerde yol gösterici bir parametre olarak kullanılabilir. (Turk J Ophthalmol 2014; 44: 63-67) Anahtar Kelimeler: Amiodaron keratopatisi, konfokal mikroskopi, kornea vertisillata Objectives: To investigate the correlation between biomicroscopic and confocal microscopic findings in eyes with amiodarone-induced cornea verticillata. Materials and Methods: Sixteen eyes of 8 patients with amiodarone-induced cornea verticillata were evaluated. Eyes with keratopathy were staged according to Orlando slit-lamp microscopy classification. Confocal laser-scanning microscopy was performed by Rostock cornea modulated to HRT II (Heidelberg Engineering GmbH, Heidelberg, Germany), and staging was done according to Falke's classification that is based on the degree of epithelial basal cell deposit accumulation. The relation between biomicroscopic staging and corneal involvement detected on confocal microscopy was assessed by Spearman correlation analysis. Results: The mean age of the 8 patients (5 male, 3 female) was 63.1±7.2 (50 to 69) years. The mean duration of drug treatment was 12.1±11.8 (3 to 36) months, and the mean drug treatment dose was 312.5±223.2 (100 to 800) mg/day. At the time of examination, 50% of the patients had already given up t...

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“…17 There is some evidence that in vivo confocal laser-scanning microscopy can detect differences between amiodarone-related corneal verticillata and FD. 20 Other rare ocular conditions can result in vortextype lesions at the level of …”

Section: Ocular Manifestations Of Fabry Disease Corneal Verticillatamentioning

confidence: 99%

Early Detection of Fabry Disease – The Important Role of Ophthalmology

Willoughby¹

2014

European Ophthalmic Review

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The diagnosis of Fabry disease (FD; MIM #301500), a rare genetic disorder, is often missed or delayed as the systemic symptoms of FD show similarities to several other common medical conditions. Delayed diagnosis has significant clinical implications for the patient as FD can result in end-stage renal disease and life-threatening cardiovascular or cerebrovascular complications. Early diagnosis is preferable in achieving the best clinical outcomes for patients. FD demonstrates several classic ocular features, which are asymptomatic and observable through a routine eye examination. These features usually present early in the course of the disease and the identification of the ocular signs of FD offer a vital opportunity to diagnose FD, maximising the chance to improve patient outcomes. KeywordsFabry disease, cornea verticillata, lens opacities, vascular tortuosity, genetics Disclosure: Colin Willoughby has no conflicts of interest to declare.

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Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy

Cited by 29 publications

References 16 publications

Fabry disease: a survey of visual and ocular symptoms

Fabry disease: a survey of visual and ocular symptoms

Correlation of Biomicroscopic Findings with Confocal Microscopy in Eyes with Amiodarone-Induced Cornea Verticillata

Early Detection of Fabry Disease – The Important Role of Ophthalmology

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