familial dominant drusen

FAMILIAL DOMINANT DRUSEN

Prof Dr.VASANTHADr Rajni

Dr Mohan

D r Sharmila

Dr Nithin Keshav

FAMILIAL DOMINANT DRUSEN

(MALATTIA LEVENTINESE)

• Autosomal Dominant

• Fibulin gene EFEMP1 on Ch 2

• First described in 1899 by Robert Walter Doynehence also known as DOYNE HONEYCOMB CHOROIDITIS

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 5th decade ,presents with CNV or geographic atrophy

• MALATTIA LEVENTINESE (Malady of Leventine Valley):

Multiple basal laminar drusen with spoke like radial distribution centered on the fovea.

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 +

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 +

LEFT EYE:

Media clear

Disc margins defined , CD ratio normal

Vessels normal

Multiple drusen present throughout the posterior pole

Macula normal , FR +

INVESTIGATIONS

RE LE• Vn 1/60 NIP 1/60 NIP

• Tn 17.3 17.3

• BP 140/90 mmHg

• RBS 101 mg/dl