LEBER'S DISEASE V

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Abstract
SUMMARY: This is the final of a series of papers reporting attempts to elucidate the heredity of Leber's optic neuritis by following descending female lineage in 20 pedigrees described first by Lundsgård in 1944.The present paper deals with 16 families 4 of which have propagated so abundantly that during continued follow‐up they must be considered of value in studying the mode of inheritance. The remaining pedigrees are for various reasons not suited for affording particulars about the inheritance of the carrier property. The discussion concerns the possibilities of obtaining an ideal material for determining the carrier rate. As the carrier property is disclosed mainly by manifestation of the disease among the descendants, the ideal basis for calculation comprises only women who have got so many descendants that there is ample chance of manifestation. However, the study has shown that only a few families reproduce so briskly as to afford a basis for deciding whether the carrier rate is 50% or 100% among the girls born in the female lineage.The conclusion of the whole study is that in the two families with the best reproduction the carrier rate among the women born in the female lineage is higher than 50%, among reproductive women 100%. This seems so clear that it cannot be interpreted as a chance accumulation of carriers. The other pedigrees do not include examples militating definitely against this interpretation.100% carriers among the daughters of carriers and healthy men is not in accordance with Mendelian proportions. It is uncertain, therefore, whether the trait of Leber's disease is chromosomal. Thereby it is also uncertain whether this trait may be expected to have same stability as a gene. This, combined with a wish to see further examples of briskly reproducing families which may confirm the result, is the reason why the author does not consider the finding of 100% carriers among the carriers' daughters as being an established general rule for all families with Leber's optic neuritis.

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