Jalili syndrome is a
genetic disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
characterized by the combination of
cone-rod dystrophy of the retina and
amelogenesis imperfecta.
It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an
inbred Arab family living within the
Gaza Strip
The Gaza Strip (;The New Oxford Dictionary of English (1998) – p.761 "Gaza Strip /'gɑːzə/ a strip of territory under the control of the Palestinian National Authority and Hamas, on the SE Mediterranean coast including the town of Gaza.. ...
.
[
]
Presentation
Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties; optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot deposits or retinal pigment epithelium (RPE) alterations in the inferonasal retina; decreased foveal and retinal thickness; attenuation of retinal lamination; hyperreflectivity in the choroid
The choroid, also known as the choroidea or choroid coat, is a part of the uvea, the vascular layer of the eye, and contains connective tissues, and lies between the retina and the sclera. The human choroid is thickest at the far extreme rear ...
s (due to RPE and choriocapillaris atrophy); impairment of color vision; and progressive loss of vision with advancing age.
In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dysplastic, presenting numerous caries;[ reduced enamel layer prone to posteruptive failure; and abnormality of morphology involving ]dentin
Dentin () (American English) or dentine ( or ) (British English) ( la, substantia eburnea) is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth. It is usually covered by ena ...
e.
Genetics
The Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
, CNNM4. Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it ...
for several different mutations in the CNNM4 gene.
Management
Epidemiology
The distribution of Jalili syndrome sufferers is varied. Instances, beyond the Gaza strip patients who characterized the syndrome, include a two generation family from Kosovo
Kosovo ( sq, Kosova or ; sr-Cyrl, Косово ), officially the Republic of Kosovo ( sq, Republika e Kosovës, links=no; sr, Република Косово, Republika Kosovo, links=no), is a partially recognised state in Southeast Euro ...
who presented in the first few years of life with autosomal recessive cone-rod dystrophy and the hypoplastic/hypomineralized variant of amelogenesis imperfecta,[ a sister and brother from Kosovo who presented at ages 14 and 7 respectively with dysplastic and discoloured decidual and permanent teeth,][ and a five generation Lebanese family with two sisters and a male cousin presenting ocular and dental phenotypes akin to the Kosovan siblings.][
In 2009, new examinations of the original Palestinian and Kosovan families reported by Jalili and Smith in 1988 and Michaelides et al. in 2004, led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities, leading to the proposal of the term “Jalili syndrome” by Parry et al.][ A small cluster of eight individuals has been documented among the Amish in rural west-central Wisconsin. ]
References
Further reading
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* Jalili, I.K
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs
''Eye'' (2010) 24, 1659–1668; doi:10.1038/eye.2010.103.
External links
{{Medical resources
, DiseasesDB =
, ICD10 = H35.5
, ICD9 =
, ICDO =
, OMIM = 217080
, MedlinePlus =
, eMedicineSubj =
, eMedicineTopic =
, MeshID =
, Orphanet = 1873
OMIM Database (Jalili Syndrome)
Rare syndromes
Autosomal recessive disorders
Syndromes affecting the retina