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 ECTODERMAL SYNDROMES Elastosis dystrophica The association of angioid streaks with pseudo-xanthoma elasticum was first recognized in 1929 by Grönblad. Subsequently Prick and also Urbach and his associates have shown that elastic tissue degeneration involves the systemic arteries with secondary hypertension. The term elastosis dystrophica was suggested by Bock. Calcinosis of the skin is not uncommon whilst central choroidal sclerosis appears to have replaced angioid streaks in one family (Fig. 22Ab). Ò S 5 Й Ò □ 0 0 ¿ ^ 1 i ■ ■ ¿¿oí 1 ¿ A ¿Ai ш íüííaii Eye trouble. Pseudo-xanthoma elasticum and choroidal sclerosis. ib) Fig. 224.—Elastosis dystrophica. (a) Pedigree suggestive of recessive inheritance. {After H. Härtung (1932). Klin. МЫ. Augenheilk, 88, 43.) {b) Pedigree recording choroidal sclerosis instead of angioid streaks. {After B. Anderson (1948). Trans. Amer. Ophthal. Soc., 46, 326.) ■ Pseudo-xanthoma elasticum and angioid streaks. Ш Ф Fundus coloration not uniform. («) The possibility that osteitis deformans also falls into this group has already been indicated, but angioid streaks appear to be relatively uncommon in osteitis deformans, whilst pseudo-xanthoma elasticum would appear to be exceptional. The frequency with which the components of the syndrome are associated is not well known. In one series pseudo-xanthoma was found in 59 per cent of patients with angioid streaks, whilst in 100 cases of pseudo-xanthoma recorded in the literature, there were 87 in which angioid streaks were noted. The mode of inheritance is probably recessive (Fig. 224 a), though there is some evidence that there might be a dominant form. In contrast to true xanthomatous changes of the skin, there is no evidence of any lipoid disturbance. Chondrodystrophy with vascular hamartomas {MajfuccVs syndrome) In this rare affection there are associated a chondrodystrophy of the Oilier type with cavernous angiomas and phlebectasia. In one case there was papilloedema from cerebral glioma. The exact genetic status and ocular aspects of the syndrome are still undetermined. PREDOMINANTLY ECTODERMAL SYNDROMES Amongst a mass of skin affections in which cataract is occasionally seen, two hereditary syndromes stand out. Rothmund's syndrome and Werner's syndrome 235