Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an
autosomally recessive disease that was first described in 1985.
Three cases are known: all are sisters in the same family.
Symptoms and signs
The age of onset is in a child's
infancy.
Bilateral corneal opacification started in the second year of life and led to severe visual impairment. However,
cornea surgery and replacement resulted in better vision.
Symptoms include a combination of
spinocerebellar degeneration and
corneal dystrophy
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.
Signs and symptoms
Corneal dystrophy may not significantly affect v ...
.
Mental retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...
and slowly progressive cerebellar abnormalities were also diagnosed in patients. Other symptoms include corneal edema, thickening of
Descemet membrane, and degenerative
pannus
Pannus is an abnormal layer of fibrovascular tissue or granulation tissue. Common sites for pannus formation include over the cornea, over a joint surface (as seen in rheumatoid arthritis), or on a prosthetic heart valve. Pannus may grow in a t ...
. Abnormalities were found in muscle and sural nerves.
Cause
Diagnosis
Differential diagnosis
It was concluded by Mousa-Al et al. that the disease is different from a disease known as
spastic ataxia-corneal dystrophy syndrome that had been found a year later in 1986 in an
inbred
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and o ...
Bedouin family.
Corneal-cerebellar syndrome differs from the spastic ataxia-corneal dystrophy syndrome by causing intellectual disability. Corneal dystrophy is also
epithelian instead of being
stromal.
Treatment
See also
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Rare disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discov ...
References
Further reading
*
*
External links
{{Medical resources
, DiseasesDB =
, ICD10 =
, ICDO =
, OMIM = 271310
, MedlinePlus =
, MeSH = C535472
, GeneReviewsNBK =
, GeneReviewsName =
, Orphanet = 3177
Autosomal recessive disorders
Rare syndromes
Syndromes affecting the cornea
Syndromes affecting the cerebellum