CHED 2 = MC/AR present at birth and does not get worse and is therefore called "stationary". The child develops nystagmus because there is no visual sensory input from birth. [brainscape.com]

Clinical features: Presents in childhood. [columbiaeye.org]

Meeting Presentation The abstract of this paper was presented at the ARVO 2019 Annual Meeting as an abstract presentation with interim findings. [dovepress.com]

The disease may recur in the graft after several years, presenting as fine subepithelial opacities anteriorly and peripherally in contrast to the original presentation. Elective LASIK and PRK are contraindicated. [aao.org]

In addition, the presentation of some corneal dystrophies in the pediatric population of patients can differ dramatically from that in seen adults. [ophthalmologytimes.com]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 5q31” refers to band 31 on the long arm of chromosome 5. [rarediseases.org]

• Confusion

  To our knowledge, TBCD is frequently confused with Reis-Bucklers corneal dystrophy (RBCD, OMIM 608470) [14, 15], which also affects Bowman’s layer and can be difficult to differentiate both clinically and histopathologically [9, 10]. [bmcophthalmol.biomedcentral.com]

[…] onset Determine presence of renal disease (polyuria/polydipsia) Ocular irritation or photophobia Slit-lamp exam: polychromatic cystine crystals in the conjunctiva, anterior stroma as early as 1 yo Gonioscopy: cystine crystals in trabecular meshwork Workup [brainscape.com]

Caution in stopping the treatment was correct. [journals.sagepub.com]

Treatment Treatment Options: Ablative treatments of the diseased cornea can be effective in reducing symptoms for extended periods but eventually the degenerative changes recur. [disorders.eyes.arizona.edu]

Treatment[edit] Treatment is aimed at managing the symptoms of the disease. A form of laser eye surgery named keratectomy may help with the superficial corneal scarring. [en.wikipedia.org]

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]

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]

[R124L;T125_E126del], which cause RBCD and an atypical variant of GCD, had the worst prognosis (significant recurrence of deposits occurred 5-8 years after the first procedure). [journals.sagepub.com]

When vision is affected, DALK or PK has a good prognosis. The disease may recur in the graft after several years, presenting as fine subepithelial opacities anteriorly and peripherally in contrast to the original presentation. [aao.org]

Etiology Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBIgene (5q31), like Reis-Bücklers corneal dystrophy. [rarediseases.info.nih.gov]

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]

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]

Debridement of the corneal epithelium does not prevent the opacities from recurring, but rigid contact lenses have been shown to lessen the number of opacities in some patients. [brainscape.com]

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]