Dominant Microspherophakia

Isolated bilateral ectopic microspherophakia

“…8,10 Familial microspherophakia, generally not associated with other systemic malformations, is inherited as an autosomal recessive trait and associated with ectopia lentis where the lens is most frequently displaced upwards. 3,4 With our patient the manifestation of this condition is sporadic or possibly familial as no previous case was identified in the immediate family.…”

“…It is most often hereditary or familial or integrated into a general malformation syndrome. [2][3][4][5] Several authors have reported that this condition is bilateral in the majority of cases and affects both sexes equally.…”

“…Microspherophakia may also occur in other inherited or familial affections, 3,8,9 such as Marfan syndrome or Weill-Marchesani syndrome. [2][3][4] Marfan syndrome is an …”

“…Microspherophakia can be isolated or associated with other ocular or systemic manifestations, with known etiology or not. [2][3][4] We present a clinical case observed in the ophthalmology unit of the Gynaeco-Obstetric and Pediatric Hospital of Yaoundé.…”

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

“…It has also been described as an occasional feature of other syndromes, viz., Marfan syndrome, homocystinuria, X-linked Alport syndrome, and sulfite oxidase deficiency. Finally, it may occur in association with ectopia lentis and glaucoma as an isolated familial anomaly with either an autosomal dominant or an autosomal recessive pattern of inheritance (Johnson et al 1971). Light-microscopic examination of semi-thin sections of the skin of patient IV-8 from family 1 showed that the organization of the dermal collagen bundles was largely similar to that of the controls (Fig.…”