Senior–Løken syndrome is a
congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
eye
Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and conv ...
disorder, first characterized in 1961.
It is a rare,
ciliopathic,
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
disorder characterized by
juvenile nephronophthis and progressive
eye disease.
[.]
Genetics
Genes involved include:
Pathophysiology
The cause of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the
cilia
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projecti ...
.
[.]
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of
genetic disorders, both
genetic syndromes and
genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the
genetypical root cause of the widely varying,
phenotypically-observed
disorders. Such diseases are becoming known as
ciliopathies
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while a ...
. Known ciliopathies include
primary ciliary dyskinesia,
Bardet–Biedl syndrome,
polycystic kidney and
liver disease,
nephronophthisis,
Alström syndrome,
Meckel–Gruber syndrome and some forms of
retinal degeneration.
Diagnosis
Treatment
References
External links
*
*
NCBI Genetic Testing Registry
Congenital disorders
Autosomal recessive disorders
Rare diseases
Syndromes affecting the eye
Ciliopathy
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