PubMed · 6037968
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T F Schlaegel. 1967. Histoplasmic choroiditis.. https://pubmed.ncbi.nlm.nih.gov/6037968/
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Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA.
This case study focuses on keratopathy and chorioretinopathy resulting congenital syphilis. The patient is a 51-year-old man who had diabetes mellitus for eleven years. Furthermore he had interstitial keratitis due to syphilis. Both fundi showed chorioretinal atrophy. The fundus findings were similar to those of retinitis pigmentosa. We examined the visual field, ERG and dark adaptation. The serological test for syphilis was positive. A diagnosis of congenital syphilis with keratopathy and chorioretinopathy was made.
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