familial dominant drusen
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FAMILIAL DOMINANT DRUSEN
Prof Dr.VASANTHADr Rajni
Dr Mohan
D r Sharmila
Dr Nithin Keshav
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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
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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
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• MALATTIA LEVENTINESE (Malady of Leventine Valley):
Multiple basal laminar drusen with spoke like radial distribution centered on the fovea.
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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 +
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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 +
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LEFT EYE:
Media clear
Disc margins defined , CD ratio normal
Vessels normal
Multiple drusen present throughout the posterior pole
Macula normal , FR +
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INVESTIGATIONS
RE LE• Vn 1/60 NIP 1/60 NIP
• Tn 17.3 17.3
• BP 140/90 mmHg
• RBS 101 mg/dl