Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly

Background - A 60 member Turkish kindred with autosomal dominant hypertensi on, which cosegregates completely with brachydactyly and short stature, was studied. Affected people have severe hypertension and generally die of str oke by the age of 50. The hypertension closely resembles essential hyperten sion and, accordingly, the mechanisms of blood pressure elevation are unkno wn. The gene responsible was mapped to chromosome 12 p. Methods - All 29 affected family members underwent a basic physical examina tion and funduscopy. Other than markedly elevated blood pressures and the r esidua of stroke in a few subjects, the apparent lack of end organ damage w as striking, including the normal appearing fundi. Five affected individual s were studied in a clinical research unit study. All underwent a complete ophthalmological examination. Fluorescein angiograms were obtained in three subjects. Results - Systolic blood pressures ranged from 170 to 250 mm Hg, while dias tolic blood pressures ranged from 100 to 150 mm Hg in affected individuals. In all affected subjects, the fundi were only minimally altered or clinica lly normal. All three fluorescein angiograms were normal. Despite severe hy pertension since childhood the patients showed no signs of hypertensive ret inopathy. Conclusions - The absence of hypertensive retinopathy in this novel form of inherited hypertension is due to an altered structure of retinal arteriola r walls or some other protective mechanism. Since evidence of end organ dam age is scarce in other organs as well, the protective mechanism appears to be generalised.