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A hereditary and clinical study of choroideremia

McCULLOCH, C.; McCULLOCH, R.J.P.

Transactions - American Academy of Ophthalmology and Otolaryngology. American Academy of Ophthalmology and Otolaryngology 52: 160-190

1948

ISSN/ISBN: 0002-7154
PMID: 18901798
Document Number: 10528
This study of two families showing cases of choroideremia allows us to analyze the hereditary characteristics and outline the history, clinical course, and final prognosis of this disease. Choroideremia is carried as a sexlinked, recessive characteristic. The male cases in their youth progressively develop night blindness and constricted fields, going on to complete blindness in old age. They present a fundus appearance characterized by atrophy of the pigment epithelium and choroid. The female carriers show an appearance in the fundus of areas of depigmentation accompanied by dispersion of pigment granules into the retina. This finding is present from youth to old age, is not progressive, and is not accompanied by any deficiency of vision.

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A hereditary and clinical study of choroideremia

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