Microphthalmia, Syndromic 10

Clinical Features

Kanavin et al. (2006) reported 3 children from 3 interrelated and consanguineous Pakistani families who had congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, and profound mental retardation. Psychomotor development was normal during the first 6 to 8 months of life, followed by rapid, continuous decline of performance in all areas, such that by 9 months of age their condition was marked by constant crying, vomiting, and spasticity. An MRI performed at 3 days of age in the first patient was normal, with atrophy of the cerebellar vermis and corpus callosum observed at 15 months, progressing to extensive atrophy of those structures at 8 years of age. The second patient, who had an earlier onset of deterioration than the other 2, had more pronounced atrophy on MRI at 15 months and liquefaction of the upper ventral pons at 5 years of age. Similar progression was observed on MRI in the third patient, who showed involvement of the cerebral white matter at 8 months of age. The degenerative process resulted in complete loss of all cerebral white matter and marked atrophy of the brainstem, with liquefaction of the ventral aspect. MR angiography was normal in the 2 patients studied, and proton MRS showed increased myoinositol. Kanavin et al. (2006) stated that there were no similar reported cases of congenital ocular malformation and extensive brain atrophy and proposed the designation MOBA (microphthalmia brain atrophy) disease.