Granular Corneal Dystrophy on:
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Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.
Granular corneal dystrophy has two types:
* Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist
Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.
Granular corneal dystrophy has two types:
* Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist Arthur Groenouw
Arthur Groenouw (27 March 1862 – 1945) was a German ophthalmologist born in Bosatz, a village near Racibórz, Ratibor.
He studied medicine in University of Breslau, Breslau, and was an assistant to physiologist Rudolf Heidenhain (1834–189 ...
in 1890.
* Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy is also a rare form of corneal dystrophy. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino
Avellino () is a town and ''comune'', capital of the province of Avellino in the Campania region of southern Italy. It is situated in a plain surrounded by mountains east of Naples and is an important hub on the road from Salerno to Benevento. ...
.
Presentation
Granular corneal dystrophy is diagnosed during an eye examination by anophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders.
An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...
or optometrist
Optometry is a specialized health care profession that involves examining the eyes and related structures for defects or abnormalities. Optometrists are health care professionals who typically provide comprehensive primary eye care.
In the Uni ...
. The lesions consist of central, fine, whitish granular lesions in the cornea. Visual acuity is slightly reduced.
Genetics
Granular corneal dystrophy is caused by a mutation in theTGFBI
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the ''TGFBI'' gene, locus 5q31.
Function
This gene encodes an RGD-containing protein that binds ...
gene, located on chromosome 5q31. The disorder is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for the disorder is located on an autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
(chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
The gene TGFBI encodes the protein keratoepithelin.
Diagnosis
Treatment
Corneal transplant is not needed except in very severe and late cases. Light sensitivity may be overcome by wearing tinted glasses.See also
* Corneal dystrophyReferences
{{Human_corneal_dystrophy Disorders of sclera and cornea