Lattice degeneration in a family: with retinal detachment and cataract.

Abstract

Nearly a century ago Lang (i 885) described the occurrence of retinal detachment in a brother and his sister. Since that time many pedigrees have been presented to illustrate the hereditary nature of some cases of simple (syn. serous, idiopathic, rhegmatogenous, perforated) retinal detachment. Most of the earlier authors related the occurrence of the detachment to the presence and degree of co-existing myopia. Braendstrup (i94I) and Cuendet, Streiff, and Dufour (1958) have described a myopic family of five generations in which dominant transmission of retinal detachment was apparent. The hereditary nature of certain cases of detachment is evident from those pedigrees in which a detachment occurs in non-myopic individuals of a myopic sibship (Millikin, I896; Edmund, I96I). Fransois (I968) has described retinal detachment occurring in an emmetropic family in which dominant transmission occurred. Although this is the usual mode of inheritance in familial cases, recessive and sex-linked (Vogt, I 936) inheritance have also been observed.Vogt (I924) indicated that it is the predisposing retinal or vitreoretinal degeneration rather than the retinal detachment which is transmitted, and in recent years family studies of certain types of retinal degenerative disorders, especially lattice degeneration, have been reported.Recently two brothers with retinal detachments received treatment at the High Holborn branch of Moorfields Eye Hospital, and as their mother and other close relatives were also known to have developed a retinal detachment it was decided to examine as many members of the family as possible in order to detect the presence of any asymptomatic predisposing retinal degenerative lesions which might benefit from prophylactic therapy. MethodsA family tree comprising I IO members was constructed. The progenitors married in I889 and there is good reason for assuming that they were cousins. An attempt was made to contact as many surviving members of the family as possible. Most were aware of the family history of retinal detachment and welcomed the opportunity to be examined; a small number declined the offer or lived too far away to attend. In the latter case, the local ophthalmologist was informed and asked to examine the patients. Children under the age of 5 years were excluded from the survey. 59 patients were examined either at Moorfields Eye Hospital, or at the Eye Department of the Kent and Sussex Hospital, Tunbridge Wells. An ophthalmic and general medical history were obtained. Routine ophthalmic examination included direct and indirect ophthalmoscopy, and the Goldmann 3-mirror gonioscope was used whenever possible.Information regarding a further six patients was obtained by studying case sheets of patients examined and treated elsewhere.

Genetic Risk of Rhegmatogenous Retinal Detachment

“…Former reports regarding familial, nonsyndromic RRD predominantly describe myopic families. 18,23,24,28,32 The genetic background of myopia is still unclear, but linkage in specific families has been found with 5 different loci (Xq28; 18p11.31; 12q21-q23; 7q36; 17q21-q22). 19,[33][34][35][36] Cataract extractions did not precede RRD considerably more frequently in relatives of cases than in relatives of controls, indicating that cataract extraction did not explain familial aggregation of RRD in our study.…”

“…Case reports and twin studies have shown that retinal dialysis, idiopathic giant tears, lattice degeneration, and myopia can aggregate in families or can show a remarkable resemblance among relatives. [13][14][15][16][17][18] The genetic risk for myopia has been studied most profoundly, and a fifth genetic locus for high myopia was found recently. 19 Multiple RRDs, both with and without myopia, have been described in families.…”

Genetics of Lattice Degeneration of the Retina

“…Previously, autosomal-dominant inheri tance with reduced penetrance or autoso mal-recessive inheritance has been postu lated for the genetics of lattice degeneration of the retina, but the view was based on pedigree analysis of a single 'interesting' family or on a clinical impression [2][3][4][5], Since lattice degeneration of the retina is found frequently, it may occur often that the transmission pattern is apparently matched to the autosomal-dominant or recessive mode of inheritance.…”

“…Although the risk for retinal de-tachment is considerably low with reference to the relatively high prevalence, lattice de generation may be the most important among a variety of peripheral retinal anom alies which potentially induce retinal break, and in fact, it is responsible for about 30-40% of patients with rhegmatogenous retinal detachment [1], In view of the devel opmental or degenerative process of its reti nal pathology, it is possible to assume a hereditary factor in the genesis of this con dition. Pedigrees with more than 2 affected family members with or without associated retinal detachment have been described, and on the basis of pedigree analysis either auto somal-dominant or recessive inheritance has been suggested [2][3][4][5], There has, how ever, been no previous study dealing with data accumulated from many families, and this may be the reason for yet inconclusive views concerning the genetics of lattice de generation of the retina. This paper describes a preliminary genet ic-statistical analysis of our observation with particular interest in the first-degree rela tives of patients.…”