PURPOSE To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis. METHODS twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of...

INTRODUCTION Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision. The classic clinical triad is considered to be the presence of bone spicule pigmentation in the peripheral retina, arteriolar attenuation, and waxy disc pallor. Cataracts, most commonly of the posterior subcapsular type, are often found in all f...

Homocystinuria is an inborn error of the metabolism of methionine, which is associated with a deficiency of cystathionine synthase activity in liver and brain. It is inherited as an autosomal recessive trait; characteristic clinical stigmata usually include mental retardation and ectopia lentis (Carson, Dent, Field, and Gaull, I965; Schimke, McKusick, Huang, and Pollack, I965; Mudd, Finkelstein...

AIMS To demonstrate the value of environmental scanning electron microscopy (ESEM) when used in combination with immunogold/silver enhancement methods as a valuable tool in ocular research, and to determine the phenotype of macrophages associated with the tunica vasculosa lentis while maintaining a topographical view of the lens surface. METHODS Prenatal and postnatal rat eyes were investigat...

Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatograp...