Phenotype #0000300843

Individual ID	00408724
Associated disease	-
Phenotype details	bilateral macular neovascularization - photodynamic therapy (PDT) in the right eye once, 5x in the left eye; best corrected visual acuity right, left eye: 20/25, 20/400 in the left; family history: affected mother, maternal aunt, and two maternal cousins; treatment with PDT and an intravitreal injection of triamcinolone 4 mg - dramatic reduction in the neovascularization in both eyes; signs of recurrence right eye after 9 months - retreatment; left eye: extensive scarring and received no further treatment; then, periodic intravitreal triamcinolone injections alone, switched to bevacizumab and later with ranibizumab, but with each of these she repeatedly developed signs of exudation and hemorrhage by 1 month after injection; maintained on intravitreal injections of 4 mg triamcinolone approximately every 3 -4 months; corticosteroid-related cataract extraction and filtering surgery for uncontrolled glaucoma; optical coherence tomography: extensive double-layered sign with - a large area of neovascularization; due to the perceived increased risk for endophthalmitis in an eye with a filtering bleb receiving intraocular corticosteroid injections, an effort was made to switch the patient to a therapy with a lower endophthalmitis risk - a TNFalpha inhibitor, adalimumab, 2 40 mg doses subcutaneously followed by 40 mg every twice monthly - complete cessation of disease activity
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-26 11:29:39 +02:00 (CEST)
Date last edited	N/A