Jalili syndrome is a genetic disorder characterised by comorbid occurrence of cone-rod dystrophy and amelogenesis imperfecta (abnormality in enamel formation). Cone-rod dystrophy often leads to vision loss due to deterioration of cones and rods present in the retina. Abnormality in skin pigmentation ; involuntary, rhythmic movements of the eyes (nystagmus); and sensitivity to light (photophobia) has also been reported in patients with Jalili syndrome. It is known to be linked to chromosomal region 2q11 and homozygous or compound heterozygous mutations in CNNM4 gene.
[See: Palestine > Jalili, 2010].
Jalili and Smith (1988) reported 29 cases of cone-rod dystrophy co-occuring with amelogenesis imperfecta in an Arab family from Gaza Strip. While studying seven generations of this family, wherein 13 marriages were consanguineous, an autosomal recessive inheritance pattern was observed.
[See: Palestine > Jalili and Smith, 1988].