Rare association of retinitis pigmentosa and Marfan's syndrome--a case report.
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.
Department of Ophthalmology, NRS Medical College, Kolkata 700014.
Prasenjit
P
Maiti
Nirmal Kumar
NK
Sasmal
Radhakrishna
R
Mandal
Anil Kumar
AK
Ghanta
Sanjoy
S
Chatterjee
Subhra
S
Sarkar
Piyali
P
Sarkar
Sanjib Kumar
SK
Purkait
Sudeshna
S
Roy
Asim
A
Dey
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000503:physiopathology; D003941:Diagnostic Techniques, Ophthalmological; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000503:physiopathology; D008944:Mitral Valve Insufficiency / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis; D015354:Vision, Low / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology