[Retinal findings in the hereditary persistence of fetal hemoglobin and glucose-6-phosphate dehydrogenase deficiency (G-6-PD deficiency)].
Peripheral arteriolar occlusions of the retinal vessels and the 'black sunburst sign' as the first stage of sickle-cell retinopathy (Goldberg 1976) were found in a 34-year-old black patient from West Africa with hereditary persistence of fetal hemoglobin (HPFH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PD-D). The patient's son was found to have HPFH without G-6-PD-D, his daughter HPFH as well as G-6-PD-D. Ophthalmoscopic findings in the two children were normal. In the mother - a white German without clinical symptoms - neither HPFH nor G-6-PD-D were found. This is the first description of the typical picture of 'sickle-cell retinopathy' in a patient with HPFH combined with G-6-PD-D. HPFH is not associated with any retinal symptoms or hematological abnormalities. Hemolytic crises induced by fava beans or drugs in G-6-PD-D alone lead to different ocular complications from those found in this patient.
Kluxen
G
G
Scheja
J W
JW
Sauer
H
H
D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D005451:Fluorescein Angiography; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications*; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*
D005319:Fetal Hemoglobin
Retinabefunde bei hereditärer Persistenz fetalen Hämoglobins (HPFH) mit Glucose-6-phosphat-Dehydrogenase-Mangel (G-6-PD-Mangel).