Familial nanophthalmos.
Four members of one sibship had microphthalmos with fundi having an irregular "rippled* appearance with alternating light and dark red coloration. Fluorescein angiography revealed patchy choriocapillaris perfusion with unusually rapid diffusion into the retina. Genealogic and geographic data strongly suggest autosomal-recessive inheritance. Only one patient developed glaucoma. The unique combination of abnormalities in this family suggests that a new recessive mutation may be responsible.
D000368:Aged; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree