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CONGENITAL MACULAR “COLOBOMA” AND RETINAL APLASIA: a sibship of two males *
Author(s) -
PHILLIPS CALBERT I.,
STOKOE N. LESLIE,
NEWTON MARJORIE
Publication year - 1981
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1981.tb05765.x
Subject(s) - consanguinity , aplasia , medicine , consanguineous marriage , retinal , brother , pediatrics , genetics , ophthalmology , biology , anatomy , sociology , anthropology
Two brothers of non‐consanguineous parents are described with bilateral macular colobomata and retinal aplasia. One other brother, two sisters and both parents are normal and no other member of the known family has defective vision from this cause. For this family the probability that autosomal recessive genes are responsible is 83 % while the possibility in favour of an X linked recessive gene is 17%. After the birth of the first blind child, no genetic counselling was requested or offered. The tragedy of a second affected child was completely unexpected by the parents. Recessive genes, autosomal if a female is involved, and also X linked if only male(s) are affected, should be specifically considered as a possible cause in any very rare or unknown bilaterally symmetrical eye disease even in the absence of consanguinity of parents.