Jalili Syndrome
Patient Information
Characteristics
Background and History
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.
Clinical Correlations
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.
Genetics
Inheritance
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%.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
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.
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