Genetics in ophthalmology / Arnold Sorsby.

  • Arnold Sorsby
Date:
1951
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Genetics in ophthalmology / Arnold Sorsby. Source: Wellcome Collection.

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    PREDOMINANTLY NEURO-ECTODERMAL SYNDROMES Fig. 229.—Tuberose sclerosis. Pedigree suggestive of dominant inheritance and variable expression. {After J. van der Hoe ve (1940). In Modern Trends in Ophthalmology, Ed. by F. Ridley and A. Sorsby. Vol. I., p. 124. London; Butterworth.) ÍT Ü Ú m TIT щ Leiosarcoma. S Epilepsy. Q Retinal tumour and epileptic fits. H Retinal tumour. ■ Cerebral tuberose sclerosis. LindaiCS syndrome Angiomatosis of the retina with its characteristic picture is now recognized as part of the Lindau syndrome. Calcification in the cerebellum or cerebrum is not uncommon. Cysts and tumours in the cerebellum, spinal cord, pancreas and kidney and other organs are also seen. It would appear that the affection is dominant with variable expressions in the different members affected (Fig. 230 a, b and c). t ¿ 11 ¿ i ir i ò ¿ ò <!> <!> I Ò ffl и Lindau's syndrome. Q О Brain tumour. Ф) <> А в А Brain angioma. А Retinal angioma. • ■ Brain and retinal angioma. (с) С (a) Marked angiomatosis of retina, bilateral. Marked angiomatosis of retina, right. Ophthalmoscopically visible angiomatosis without visual defect, right. Ophthalmoscopically visible angiomatosis without visual defect, left. Fig. 230.—Lindau's syndrome. Pedigrees suggestive of dominant inheritance and variable expression in ; (а) Angiomatosis of retina. (After L. Staz. (1941). Brit. J. Ophthal., 25, 167.) (б) Brain and retinal angioma. {After H. M. Möller (1929). Acta Ophthal., 7, 244.) (с) Brain and retinal angioma. {After J. van der Hoeve (1932). Trans. Ophthal. Soc. U.K., 52, 380.) Sturge-Weber syndrome (cephalo-facial angiomatosis) Typically there is naevus flammeus of the face, largely following the distribution of the fifth nerve on one side, together with unilateral buphthalmos and calcification in the cerebrum shown by x-ray. Localized ipsilateral skull anomalies are common, as is mental deficiency. Epilepsy and hemiplegia may occur. Buphthalmos may be replaced by chronic glaucoma, or glaucomatous optic atrophy without rise in tension. 239