The goal of this study is to identify the genetic causes underlying hereditary optic neuropathies and establish genotype-phenotype correlations. This will lead to more reliable prognosis predictions, better genetic counselling and hopefully form a…
ID
Source
Brief title
Condition
- Other condition
- Eye disorders congenital
- Congenital eye disorders (excl glaucoma)
Synonym
Health condition
oogzenuw aandoeningen
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of pathologic genetic variants in known disease associated genes
or new disease associated genes in hereditary optic neuropathies. Clinical
characterizations of hereditary optic neuropathies.
Secondary outcome
Not applicable.
Background summary
Hereditary optic neuropathies are a group of rare genetic diseases
characterized by vision loss at the early years of life. Little is known about
the underlying genetic mechanisms and the clinical characteristics of these
diseases. Although new mutations are being reported regularly, in a large group
of patients the underlining genetic changes cannot yet be detected with
standard diagnostic panels due to unclear genetic variations in known
disease-associated genes or mutations in thus far unknown disease-associated
genes. More extensive genetic analyses are needed for detection of these
mutations in known disease genes and identification of potential novel
disease-associated genes. As relatively little is also known on
genotype-phenotype correlations in hereditary optic neuropathies, better
understanding of these correlations is also needed.
Study objective
The goal of this study is to identify the genetic causes underlying hereditary
optic neuropathies and establish genotype-phenotype correlations. This will
lead to more reliable prognosis predictions, better genetic counselling and
hopefully form a base for therapeutic approaches in the future.
Study design
Molecular genetic and retrospective clinical studies.
Study burden and risks
Some of the subjects of this study will be children. There are negligible risks
for the subjects. Retrospective data collection poses no risk for the
participants and only in selected cases one-time blood sampling, which is
considered as a low risk procedure, will be performed.
Meibergdreef 9
Amsterdam 1105 AZ
NL
Meibergdreef 9
Amsterdam 1105 AZ
NL
Listed location countries
Age
Inclusion criteria
• Clinical diagnosis or suspicion of hereditary optic neuropathy based on
fundus examination supported with additional clinical examinations, such as
optical coherence tomography, perimetry or visual evoked potentials
• No underlying mutation detected with standard diagnostic panels which
sequence most common disease-associated genes for hereditary optic neuropathies
(In the second part of the study where we focus on secondary objectives, we
will also include subjects with HON with a known mutation)
Exclusion criteria
Patients with optic atrophy with a known etiology other than hereditary optic
neuropathies, such as:
• Vascular (e.g. arteritic and non-arteritic ischemic optic neuropathy)
• Compressive ( e.g. secondary to papilledema, tumour, bony growth, thyroid eye
disease, chiasmal compression, disc druses, increased intraocular pressure)
• Inflammatory (e.g. systemic lupus erythematosus, Behcet*s disease,
sarcoidosis, demyelination (MS))
• Infectious
• Traumatic optic neuropathy
• Metabolic (e.g. diabetes mellitus)
• Neoplastic,
• Radiation optic neuropathy
• Toxic & nutritional (e.g. Medications such as ethambutol, amiodarone,
antiretroviral drugs; alcohol, vitamin deficiencies). In some toxic optic
neuropathies, toxic agents can precipitate neuropathy in an susceptible optic
nerve with underlying genetic disorder. Selective cases where initial diagnosis
is toxic optic neuropathy but clinical features suggest an underlying
hereditary optic neuropathy will be also included in the study.
Design
Recruitment
Kamer G4-214
Postbus 22660
1100 DD Amsterdam
020 566 7389
mecamc@amsterdamumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL77704.018.21 |