The retinal abiotrophies (primary retinal degenerations) are a group of hereditary disorders characterized by loss of the photoreceptor layers, abnormalities of retinal pigmentation, and preservation of the inner retinal layers and optic nerve. Amaurosis congenita of Leber is an important member of this group, being found in 18% of the known blind children in the Netherlands.1
For the most part, histologic reports of retinal abiotrophy have dealt with retinitis pigmentosa.2-4 In these, mention is made of cone remnants or rudimentary cone stumps present in the posterior pole and near the ora serrata. More recently, nine eyes with retinal abiotrophy were found to have similar abnormal cones.5
This report describes the fine structure of the cone remnants and pigment epithelium in an eye with amaurosis congenita of Leber.
Report of Case
A 35-year-old musician entered the hospital with a corneal abscess of the right eye of two weeks'
KROLL AJ, KUWABARA T. Electron Microscopy of a Retinal Abiotrophy. Arch Ophthalmol. 1964;71(5):683-690. doi:10.1001/archopht.1964.00970010699016