Familial dominant drusen

1. FAMILIAL DOMINANT DRUSEN Prof Dr.VASANTHA Dr Rajni Dr Mohan D r Sharmila Dr Nithin Keshav

2. FAMILIAL DOMINANT DRUSEN (MALATTIA LEVENTINESE) Autosomal Dominant Fibulin gene EFEMP1 on Ch 2 First described in 1899 by Robert Walter Doyne hence also known as DOYNE HONEYCOMB CHOROIDITIS

3. CLINICAL TYPES Mild disease : Small discrete innocuous hard drusen confined to macula Moderate disease : Large soft drusen at posterior pole & peripapillary region Advanced disease : Seen in 5 th decade ,presents with CNV or geographic atrophy

4. MALATTIA LEVENTINESE (Malady of Leventine Valley): Multiple basal laminar drusen with spoke like radial distribution centered on the fovea.

5. CLINICAL CASE Jaya 60 yr old lady came with c/o defective vision both eyes . On Examination : Cornea - BE Clear AC - Normal depth Iris - CPN Pupil - Reacting Lens - BE Immature Cataract +

6. FUNDUS RIGHT EYE: Media clear Disc margins defined , CD ratio normal Superotemporal branch vein occlusion +, haemorhage + Multiple drusen present throughout the posterior pole Macula normal, FR +

7. LEFT EYE: Media clear Disc margins defined , CD ratio normal Vessels normal Multiple drusen present throughout the posterior pole Macula normal , FR +

8. INVESTIGATIONS RE LE Vn 1/60 NIP 1/60 NIP Tn 17.3 17.3 BP 140/90 mmHg RBS 101 mg/dl