1.
J Indian Med Assoc
; 109(6): 431-2, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22315778
RESUMO
A 25 years old male patient presented with long stature with disproportionately long limbs and digits (arachnodactyly). Examination of cardiovascular system showed mitral regurgitation and dilatation of aortic root. Slit lamp examination showed bilateral superotemporal dislocation of lens. Ophthalmoscopy revealed waxy pallor of optic disc, arteriolar attenuation and bone-spicule like pigments in the retina. The diagnosis of retinitis pigmentosa was confirmed by electroretinogram.