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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    THE GLOBE AS A WHOLE inheritance is not clearly established. Most of the recorded cases have been in sibs and consanguinity is generally not present. On the other hand there is no conclusive evidence that the affection is dominant (Fig. 52). (The oft-quoted pedigree of Martin would appear to refer to microcornea rather than to microphthalmos.) In pure microphthalmos vision is generally grossly affected, possibly as a result of non-differentiation of the macula. Occasionally actual changes at the macula have been observed. Glaucoma is a not uncommon complication (Fig. 52). Dental anomalies in the form of small or absent incisors have also been observed. Microphthalmos with other lesions The variety of lesions seen in the complicated type of microphthalmos are such that there is considerable confusion in the literature as to whether a case is regarded as microphthalmos, or of some other lesion comphcated by microphthal¬ mos. Clinically, congenital cataract is frequently seen in small eyes, and successful operative procedures give disappointing results. It is almost a matter of personal taste whether such cases are recorded as congenital cataract with small eyes, or microphthalmos complicated by cataract. The non-genetic basis of some forms of microphthalmos is clear enough from the occurrence of microphthalmos in retrolental fibroplasia seen in premature babies. On the other hand, hereditary microphthalmos is well established by such pedigrees as that of Usher, in which microphthalmos was associated with ectopic pupils and myopia (Fig. 53 a). In other pedigrees cataract has been observed (Fig. 53 b), and in yet others various anomalies in the cornea, lens and fundus. w 1 Ш n Í i ¿ tU ÍTITI □ ò (ö) ф Microphthalmos and cataract. О Cataract. # No information. Ф) Fig. 53.—Microphthalmos with other ocular lesions. Pedigrees, (a) Pedigree showing dominant inheri¬ tance of microphthalmos with myopia and ectopic pupils. (After C. H. Usher (1921). Brit. J. Ophthal., 5, 298.) {b) Pedigree showing presumed dominant inheritance of microphthalmos and cataract. (AfterN. B. Harman (1910). In Treasury of Human Inheritance, Ed. by K. Pearson, Vol. 1, Fig. 339. London; Cambridge University Press.) КШШ n Anophthalmos. . Anophthalmos and congenital heart disease. Anophthalmos, right. Rudimentary eye, left. Fig. 54.—Anophthalmos. An early pedigree. (After J. Briggs (1813). In A. Sorsbv (1934). Brit. J Ophthal., 18, 469.) 74