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This study reports on a series of 175 cases of a hitherto-unreported hereditary form of congenital blindness diagnosed as congenital retinochoroiditis, which shows a familial incidence and a high frequency in marriages of first cousins noted by Sjögren more than 25 years ago. The name heredoretinopathia congenitalis, monohybrida recessiva autosomalis, is suggested for this disease. Vision is defective at birth and consists of either total blindness or greatly impaired sight with loss of central vision and gradual deterioration of any remaining vision. The fundi show peripheral retinal pigment which is generally diagnosed as retinochoroiditis, degeneration of the retina, or tapetoretinal degeneration. Atrophy of the retina proceeds until large areas of the sclera are involved. Cataract and keratoconus are common associated features. The disease is not combined with any psychiatric or neurologic disorder. There is no increased frequency of deafmutism in these patients nor in their relatives, and no patient showed
Heredo-Retinopathia Congenitalis.. AMA Arch Ophthalmol. 1958;59(4):628. doi:10.1001/archopht.1958.00940050184025