Inheritance and the pigmentary dispersion syndrome.
The authors studied 33 patients in five families and have found that 14 of these patients fulfill criteria for the pigmentary dispersion syndrome. Affected patients had characteristics associated with the pigmentary dispersion syndrome, which are: peripheral slit-like iris transillumination defects, increased trabecular meshwork pigmentation, Krukenberg spindle, myopia, and elevated intraocular pressure. The authors observed this syndrome to be transmitted in a direct linear manner from parent to sibling in three of the four families. The transmission of this syndrome was found to be independent of refractive error, iris color, and sexual predilection, all of which are presented.
D005260:Female; D006801:Humans; D007499:Iris Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D013577:Syndrome