Corneal-cerebellar syndrome
| Corneal-cerebellar syndrome | |
|---|---|
| Synonym | Der Kaloustian-Jarudi-Khoury syndrome, corneal dystrophy with spinocebellar degeneration and spinocerebellar degeneration-corneal dystrophy syndrome |
| Classification and external resources | |
| OMIM | 271310 |
| MeSH | C535472 |
| Orphanet | 3177 |
Corneal-cerebellar syndrome (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally resessive disease that was first described in 1985.[1][2] Three cases are known: all are sisters in the same family.[1]
Symptoms
The age of onset is in a child's infancy.[1] 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.[2]
Symptoms include a combination of spinocerebellar degeneration and corneal dystrophy. Mental retardation and slowly progressive cerebellar abnormalities were also diagnosed in patients. Other symptoms include corneal edema, thickening of Descemet membrane, and degenerative pannus. Abnormalities were found in muscle and sural nerves.[2]
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 Bedouin family.[2] Corneal-cerebellar syndrome differs from the spastic ataxia-corneal dystrophy syndrome by causing mental retardation. Corneal dystrophy is also epithelian instead of being stromal.[1]
See also
References
Further reading
- Der Kaloustian VM, Jarudi NI, Khoury MJ, Afifi AK, Bahuth NB, Deeb ME, Shammas J, Mikati MA (1985). "Familial spinocerebellar degeneration with corneal dystrophy". Am. J. Med. Genet. 20 (2): 325–39. doi:10.1002/ajmg.1320200216. PMID 3872072.
- Mousa AR, Al-Din AS, Al-Nassar KE, Al-Rifai KM, Rudwan M, Sunba MS, Behbehani K (1986). "Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family—a new syndrome". J. Neurol. Sci. 76 (1): 105–21. doi:10.1016/0022-510x(86)90145-0. PMID 3465874.