Figure 2.87. Persistent hyperplastic primary vitreous (PHPV) results from a failure of the embryonic hyaloid artery system to involute. In this eye, the persistence is primarily anterior with formation of a large cataract.
Figure 2.88. In this eye, the PHPV is primarily posterior with the presence of a large stalk to the optic nerve.
Figure 2.89. Tay-Sachs disease (GM, gangliosidosis Type I) is an autosomal recessive (12q22-25) disorder which develops a macular cherry-red spot due to deposition of abnormal lipid in the ganglion cell layer of the inner retina surrounding the normal macula.
Figure 2.90. Tuberous sclerosis is an autosomal dominant (9q33-34, 16p 13) disorder of neural crest origin. This figure shows a retinal astrocytic hamartoma.
Figure 2.91. Retinoblastoma is an autosomal dominant (13ql4) disorder which usually occurs without mental retardation or other systemic malformations. This is a left eye widi a large tumor treated by enucleation. The differential diagnosis includes all causes of leukocoria (white pupil) including congenital cataracts, persistent hyperplastic primary vitreous, cicatricial retinopathy of prematurity, and the entities in the differential diagnosis of cicatricial retinopadiy of prematurity.
Figure 2.92. The right eye of the same patient as shown in Figure 2.91. These small tumors were treated with phototherapy.
Figure 2.93. Retinoblastoma also occurs as a deletion syndrome (del 13q14) with mental retardation and other systemic malformations. This is a left eye with a large tumor treated by enucleation.
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