Microphthalmia, Syndromic 10 Clinical CharacteristicsOcular 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. GeneticsThree children from 3 consanguineous Pakistani families have been reported but no locus or mutation has been identified. Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment is known. ReferencesArticle Title: Microphthalmia and brain atrophy: a novel neurodegenerative disease Kanavin OJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Stromme P. Microphthalmia and brain atrophy: a novel neurodegenerative disease. Ann Neurol. 2006 Apr;59(4):719-23. PubMed ID: 16566018 Read more about Microphthalmia, Syndromic 10
Microphthalmia and brain atrophy: a novel neurodegenerative disease Kanavin OJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Stromme P. Microphthalmia and brain atrophy: a novel neurodegenerative disease. Ann Neurol. 2006 Apr;59(4):719-23. PubMed ID: 16566018
