Download Information about Diseases and Health Conditions [Eye clinic] No

Information about Diseases and Health Conditions
[Eye clinic]
No.
Question
1. What disease (health
condition) is
described?
2. What are the reasons
for the development
of this disease?
3. What factors increase
development of the
disease or
exacerbation of the
risk (eg. age, sex,
heredity)?
4. What are the
symptoms?
5. How is disease
diagnosed?
6. What are the
available treatment
options?
Description
Axenfeld-Rieger Syndrome (disease code 3485, orphanet 782
ICD Q13.8) is a group of eye disorders that affects the
development of the eye- mainly anterior eye segment structures.
Disorder is bilateral, with no sex predilection. Approximately
50% of cases are associated with glaucoma, typically occuring
in middle or late childhood.
Most cases are autosomal dominant inheritance, but sporadic
cases can occur. Main reason- anomalous development of neural
crest – derived anterior segment eye structures.
Disorder has no sex predilection, autosomal dominant
inheritance. Although most recognized for its correlation with
the onset of glaucoma, the malformation is not limited to the
eye, as Axenfeld syndrome when associated with the PITX2
genetic mutation usually presents congenital malformations of
the face, teeth, and skeletal system.
Common eye symptoms include cornea (front transparent part
of the eye ball) defects, which is the clear covering on the front
of the eye (posterior embryotoxon), and iris (the colored part of
the eye) defects ( iris adhesions). People with this syndrome
may have an off-center pupil (corectopia) or extra holes in the
eyes that can look like multiple pupils (polycoria). About 50%
of people with this syndrome develop glaucoma, which is a
serious condition that increases pressure inside of the eye. This
may cause vision loss or blindness.
The major systemic features are mild tooth abnormalities
(microdontia, hypodontia, oligodontia and adontia) and
redundant periumbilical skin. Craniofacial dysmorphism such as
maxillary hypoplasia, sensory hearing loss, hypertelorism and
congenital heart defects may also be part of the clinical
spectrum.Other defects such as a lower than average height and
stature, a stunt in the development of the mid-facial features and
mental deficiencies may be observed.
Making a diagnosis for a genetic or rare disease healthcare
professionals typically look at a person’s medical history,
symptoms, physical exam, and laboratory test results in order to
make a diagnosis. Axenfeld- Rieger syndrome is diagnosed
performing
routine
ophthalmological
examination:
biomicroscopy, intraocular pressure measurement, gonioscopy,
ophthalmoscopy.
Ultrasound
examination,
perimetry,
pachimetry, evaluation of the optic nerve and retinal nerve fibre
layer thickness may add information to the diagnosis.
Treatment and clinical care is individualized to the patient. The
most important symptom that necessitates treatment in ARS is
glaucoma. In case of glaucoma, medical therapy is
recommended before the initiation of surgical intervention.
Medications that decrease aqueous output (β-blockers, α-
7. What are the side
effects of treatment,
and the risk of
suffering it?
8. What are the
consequences of
refusing treatment,
and the risk of them
suffering it?
9. What could be
subsequent stages of
treatment?
10. How patient can
mitigate experiencing
discomfort and
reduce the risk of
disease progression?
11. What are the
additional
instructions (eg. tips
on how not to
distribute the disease,
etc.)?
12. Who will answer
additional questions
if, there will be any?
13. Where can I find
additional
information?
agonists and carbonic anhydrase inhibitors) are more beneficial
than those affecting outflow. However, α-agonists should be
used with caution in young children because of the potential for
CNS depression. If medical therapy is not enough, procedure of
choice is trabeculectomy with the adjunctive use of
antimetabolites. In case of congenital glaucoma, surgery is
preferred. In addition, if photophobia is present in patients with
corectopia and polycoria, they may use contact lenses to cover
the holes in the iris.
The main goal is to maintain patients visual function and related
quality of life at a sustainable cost. In severe cases treatment
may not be sufficient to preserve the visual function.
Eye drops may cause itching, hyperaemia, or temporarily reduce
visual clarity; in rare cases may cause allergy, bronchospasm or
bradycardia. Some medication may increase pigmentation of iris
and growth of the eyelashes. Postoperative inflammation is
possible but uncommon complications after the surgical
operation.
The condition may lead to irreversible blindness.
The problem is life long chronic and possible progressing
course of the disease. Treatment depends on eye doctors
examination and findings. Disease severity shows variability.
The same mutation may result in different manifestations not
only in unrelated patients, but also within the same family.
You should follow instructions received from your eye doctor
and general practitioner and continue treatment regime and
follow-up as prescribed.
Anomaly is not contagious. However genetically predisposed.
Analysis of genetic samples from affected patients could result
in the discovery of one of the three known genetic mutations
which cause the syndrome. About 40% of Axenfeld-Rieger
sufferers display mutations in one of the genes known as PAX6,
PITX2 and FOXC1.
Your family doctor and your eye doctor.
http://emedicine.medscape.com/article/1206081-overview
Genetics Home Reference: June 2012;
http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome.
Accessed 12/28/2015.