ORPHA: 1852;
Godel et al. (1978) and Godel and Goodman (1981) described an Iraqi-Jewish family in which a son of each of 5 sisters had retinal dysplasia. It is not clear that this is distinct from retinoschisis (312700) of which congenital falciform fold of the retina may be an expression. In Godel's cases the characteristic ophthalmoscopic finding was an elevated retinal fold emanating from the optic disc, covering the macular area and widening toward the temporal fundus. Partial affection was found in 2 of 5 obligatory heterozygotes: 'paramacular small retinal foldlike structure' in one and 'retinal dysplastic tissue in the upper temporal periphery of the left eye' in the other. Weve (1938) commented on the preponderance of boys with falciform folds of the retina (ablatio falciformis congenita) and suggested that there is an X-linked form. Godel and Goodman (1981) postulated that the disorder in this family was distinct from Norrie disease (310600), since in affected males no clinical findings other than those associated with the eyes could be demonstrated. Moreover, 2 out of the 5 obligatory carrier females showed minimal eye changes, including retinal folds and changes in the stroma of the irides, which are atypical findings for carriers of Norrie disease. However, Ravia et al. (1993) found that the gene for X-linked recessive primary retinal dysplasia showed the same linkage relationships to markers on Xp as does Norrie disease. Thus, it may be allelic. Identification of mutations in the Norrie disease gene will settle the matter.
Godel, V., Goodman, R. M. X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females. Clin. Genet. 20: 260-266, 1981. [PubMed: 7333018] [Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb01031.x]
Godel, V., Romano, A., Stein, R., Adam, A., Goodman, R. M. Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder. Am. J. Ophthal. 86: 221-227, 1978. [PubMed: 567435] [Full Text: https://doi.org/10.1016/s0002-9394(14)76816-3]
Ravia, Y., Braier-Goldstein, O., Bat-Miriam, K. M., Erlich, S., Barkai, G., Goldman, B. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum. Molec. Genet. 2: 1295-1297, 1993. [PubMed: 8401512] [Full Text: https://doi.org/10.1093/hmg/2.8.1295]
Weve, H. Ablatio falciformis congenita (retinal fold). Brit. J. Ophthal. 22: 456-470, 1938. [PubMed: 18169555] [Full Text: https://doi.org/10.1136/bjo.22.8.456]