[Isolated microspherophakia in a Senegalese family]

Abstract

Purpose: To report the clinical investigation of isolated microspherophakia involving a Senegalese family in order to appreciate its functional impact.

Observations: This is a rural family comprised of 7 members. The sibship included three girls and two boys. One of the girls, who lived in a distant zone, was unable to be examined. Of all the examined members of the family, only the father was unaffected by the illness. There was no consanguinity. The general medical examination was normal. The best-corrected visual acuity (VA) for the girls was 2/10. For one of the boys, BCVA was 8/10 for both eyes, and for the other, BCVA was 10/10 for the right eye and 8/10 for the left eye. The mother's VA was 10/10 and P2 without correction. Myopia and astigmatism were present in the 4 children of the sibship. During the examination, we noted the presence of small crystalline lenses, which were very round and presented an abnormal visibility of the lens equator and zonular fibers. The diagnosis of microspherophakia was confirmed by measurement of the lens diameters by ultrasound biomicroscopy. Complications were present in the girls, including pupillary block glaucoma and amblyopia for the elder, and retinal degeneration and amblyopia for the younger daughter. The elder daughter was managed medically with glaucoma drops. The younger daughter received optical correction and a prophylactic Argon LASER treatment. The two boys received optical correction. No treatment was recommended for the mother.

Conclusion: Microspherophakia is a rare condition. Some serious complications can lead to amblyopia. A better multidisciplinary evaluation would allow for early detection and a better prognosis.

Keywords: Famille sénégalaise; Isolated microspherophakia; Microsphérophakie isolée; Senegalese family.