Presentation
Clinical features: Presents in childhood. [columbiaeye.org]
All 7 examined corneas presented positive stain for amyloid, thus when stained by Congo red and studied under polarized light deposits presented dichroism, showing apple-green coloration. [scielo.br]
[…] as early as 1 year of age.[1] With time, the corneal changes progress into opacities in Bowman's membrane, which gradually becomes more irregular and more dense.[1] Significant vision loss may occur.[2] However, vascularization of the cornea is not present [en.wikipedia.org]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Pain
Clinical description Corneal erosions develop in the first and second decade of life and cause ocular discomfort and pain. The erosions recur and vision gradually becomes impaired. [rarediseases.info.nih.gov]
The opacity elevates the corneal epithelium, eventually leading to corneal erosions that prompt attacks of ocular hyperemia, pain, and photophobia. [en.wikipedia.org]
Eyes
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Corneal Opacity
Orpha Number: 98960 Definition Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. [rarediseases.info.nih.gov]
Lattice corneal dystrophy type Other names Biber-Haab-Dimmer dystrophy A network of thick linear corneal opacities in patient with a variant of LCD1 (LCD type III) due to a homozygous p. [en.wikipedia.org]
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Visual Impairment
Orpha Number: 98960 Definition Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. [rarediseases.info.nih.gov]
Treatment
Management and treatment The pathologic corneal tissue can be excised surgically or with an eximer laser. Last updated: 5/1/2012 [rarediseases.info.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Etiology
Etiology Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBIgene (5q31), like Reis-Bücklers corneal dystrophy. [rarediseases.info.nih.gov]
Etiology Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBI gene (5q31), like Reis-Bücklers corneal dystrophy. [orpha.net]
Epidemiology
Epidemiology Prevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries. [rarediseases.info.nih.gov]
Summary Epidemiology Prevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries. [orpha.net]
Pathophysiology
Application of these modern methods of imaging the cornea also facilitated the choice of surgical method (penetrating keratoplasty), and helped us to understand the pathophysiology of this rare disease of the cornea. [okulistyka.com.pl]
Corneal ectasia after excimer laser keratorefractive surgery: histopathology, ultrastructure, and pathophysiology. Ophthalmology 2008; 115:2181-2191 35. Dawson DG, Ubels JL, Edelahauser HF. Cornea and sclera. In: Kaufman PL, Alm A, eds. [documento.mx]
Prevention
It is considered to prevent accumulation of crystaline deposits in the anterior stroma better then anterior keratectomy (14) and compared with PKP and DALK is a less invasive method, but is effective only when the crystals are located in superficial cornea [okulistyka.com.pl]
Keratoconus & Keratoectasia: Prevention, diagnosis, and treatment. Thorofare, NJ; Slack, 2010: 13–28. 40. Elsheikh A. Understanding corneal biomechanics through experimental assessment and numerical simulation. [documento.mx]