Microphthalmia, Syndromic 10

Clinical Characteristics
Ocular Features: 

Microphthalmia seems to be a common feature.  The globes have anterior-posterior dimensions of 5-8 mm.  No internal ocular structures can be visualized and individuals are likely blind.  The corneal diameters in two patients were measured at 3-4 mm.  The optic nerves have been described as ‘slender’ on brain imaging.

Systemic Features: 

Head circumference ranges from the 10th to the 25th percentile at birth  Psychomotor development has been described as normal during the first 6 to 8 months but is followed by rapid deterioration in performance with spasticity, vomiting and continuous crying.  An MRI on one 3 day old patient was reported as normal while at 15 months of age there was atrophy of the vermis and corpus callosum and at 8 years of age the atrophy of these structures was even more extensive.  Similar atrophy patterns were seen in the two other patients and eventually all cerebral while matter is lost and there is atrophy of the brainstem as well. 


Three children from 3 consanguineous Pakistani families have been reported but no locus or mutation has been identified.

Autosomal recessive
Treatment Options: 

No treatment is known.

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