Micro syndrome in muslim Pakistan children

Objective: To date, Micro syndrome has been reported in only three children from one family. We describe an additional 14 children from 11 families. Design: Retrospective case series. Participants: Fourteen children from 11 families attending one of five Brit ish hospitals. Main Outcome Measures: The following features were documented: pre- and pos toperative eye findings, electrophysiologic analysis, systemic abnormalitie s, development, neuroimaging, genealogy, geographic origin of family. Results: We expand and modify the description of ocular and electrophysiolo gic findings in Micro syndrome. The eye findings of microphakia, microphtha lmos, characteristic lens opacity, and atonic pupils were the presenting fe ature in all infants and were the most reliable diagnostic signs in the imm ediate postnatal period. Cortical visual impairment, microcephaly, and deve lopmental delay were not always detectable initially; they developed in all children by 6 months of age. Microgenitalia were a useful diagnostic clue in affected males only. Therefore, eye features were more consistently usef ul in determining diagnosis than dysmorphology or brain imaging. The famili es of all the children originate from the Muslim population of Northern Pak istan, Inheritance is likely to be autosomal recessive. Conclusions: Micro syndrome usually presents to the ophthalmologist, who ma y be able to make the diagnosis on the basis of characteristic eye findings combined with ethnic origin. Initially, the nature and severity of nonopht halmic features are not apparent. Early diagnosis of the underlying conditi on is important to guide management of the cataracts, glaucoma, and develop mental delay. It is helpful for the family and medical staff to be aware of the low level of vision that develops despite optimal ophthalmic intervent ion. Genetic counseling extending into the wider family is particularly imp ortant in view of the high rate of consanguinity. (C) 2001 by the American Academy of Ophthalmology.