Jalili syndrome was first reported in 1988 by an Iraqi ophthalmologist named Ismail K. Jalili. It is a rare hereditary disorder of the teeth and eyes found primarily in the Middle East.
Reduced vision and sensitivity to light are present in the first several years of life. This is a progressive disorder and vision continues to decrease throughout life. Night vision difficulties are present late in the first decade. Problems in color perception also have been noted early in life. Most patients have nystagmus (‘dancing eyes’). The retinal appearance can be similar to a relatively common condition known as retinitis pigmentosa.
The teeth are discolored and abnormally shaped. The normal hard coating called dentine is defective making them weak. This defect appears both in the baby teeth and permanent ones.
This condition is inherited in an autosomal recessive pattern requiring the presence of two mutations for expression. Each normal parent contributes one copy and the risk to each child for this condition is 25%.
Ophthalmologists and dentists together can make this diagnosis. There is no treatment for the retinal condition but dental care is required for the teeth. Lifespan is normal. Low vision aids may be useful for selected patients who have visual difficulties.