Microphthalmia, Syndromic 10
Patient Information
Characteristics
Background and History
Syndromic microphthalmia 10 is one of numerous inherited conditions in which the eye is small and does not develop normally. The brain is involved in this disorder as well.
Clinical Correlations
The skull is small from birth. The eyes can be extremely small as well and patients are likely blind although actual vision has not been reported. Psychomotor development is normal for the first 6 to 8 months of life but there is rapid deterioration in neurological function subsequently. Irritability, vomiting, constant crying, and spasticity become evident. The MRI reveals progressive loss of brain matter by 1 year of age which eventually leads to absence of all while matter of the brain with patients becoming completely dependent. Longevity is unknown but one reported patient was alive at 8 years of age.
Genetics
Inheritance
Based on a report of three interrelated Pakistani families each with one affected child, it is likely that this is an autosomal recessive disorder but no mutation has been found. Parents with a child having this disorder can expect that each of their children have a 25% risk of inheriting the same disease.
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
Pediatricians, ophthalmologists, and neurologists are most likely to collaboratively diagnose this condition. No treatment is available.
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