Progressive optic atrophy associated with juvenile diabetes mellitus: report of two cases among first cousins.
Two first cousins both suffering from insulin dependent diabetes mellitus since early childhood developed progressive optic atrophy from the age of 5 and 9 years respectively. They had similar ophthamological features which include optic atrophy with cupping, paracentral scotomata, and total achromatopsia. One patient also had stunted growth, delayed puberty and psychiatric disorder. Neither had diabetes insipidus and deafness. It is suggested that they may be a variant of DIDMOAD (Diabetes Insipidus, Juvenile Diabetes Mellitus, Optic Atrophy, Deafness).
Chuah
G
G
Singapore National Eye Centre.
Seah
S
S
Chee
S P
SP
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003929:Diabetic Neuropathies / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D014792:Visual Acuity