Rhizomelic Chondrodysplasia Punctata

Figure 2.82. This is the same patient shown in Figure 2.81 following bilateral removal of cataracts and immediate fitting with aphakic contact lenses. The infant developed perfect vision and binocular fusion.

2.83

Lowe Syndrome

Figure 2.83. Cataracts are present in Lowe syndrome (oculocerebrorenal syndrome) which is an X-linked recessive disorder (Xq25). In this syndrome, glaucoma is also frequently present.

2.84

Rhizomelic Chondrodysplasia Punctata

Figure 2.84. In the rhizomelic chondrodysplasia punctata syndrome, an autosomal recessive disorder, cataracts are frequently present.

Figure 2.85. The lens is dislocated superotemporally in the infant with Marfan syndrome which is an autosomal dominant (15ql5-21) disorder.

Figure 2.86. Homocystinuria is an autosomal recessive (cystathionine B-synthetase deficiency; 21q22) disorder which is associated with lenses usually dislocated inferiorly. Patients are tall, have osteoporosis, arachnodactyly, and mental retardation.

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