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A FAMILY PEDIGREE WITH CORNEAL DYSTROPY, TAPETORETINAL DEGENERATION AND ALBINISM
Author(s) -
PINCKERS A.,
OTTO A. J.,
HEUVEL J. E. A.
Publication year - 1973
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.1755-3768.1973.tb06024.x
Subject(s) - degeneration (medical) , medicine , albinism , dystrophy , ophthalmology , pathology , biology , genetics
This paper describes a family in which three abnormal eye conditions were observed:a) a dominant autosomal corneal dystrophy which might be interpreted as an incompletely developed granular corneal dystrophy (Groenouw I); b) a recessive autosomal diffuse tapetoretinal degeneration; c) an intermediately transmitted albinism.Also the detailed examination of a female patient with corneal dystrophy and tapetoretinal degeneration who revealed signs of segmental demyelination and remyelination, possibly a recessing neuropathy; the presence of mucopolysaccharidosis was not demonstrable in a biopsy specimen from the sural nerve.