Phenotype #0000300728

Individual ID	00408610
Associated disease	-
Phenotype details	strong family history of early-onset macular degeneration - two paternal aunts had severe vision loss from disciform scarring in both eyes, one developed vision loss starting in her late 50s, and the age of onset in the second was unknown; patient�'s father and paternal grandfather developed vision loss in their late 40; patient: 48y: macular degeneration and nyctalopia starting around the same time, photodynamic therapy in the left eye and gradually worsening vision in the right eye for 2 months, best corrected visual acuity right, left eye: 20/60, 20/400; 51y: funduscopy and fluorescein angiography: both classic and occult choroidal neovascularization with subfoveal neovascular membranes and multiple retinal pigment epithelium detachments and hemorrhage in the right eye and left eye - photodynamic therapy and thermal laser to the right eye and the left eye was observed given the recent photodynamic therapy; subretinal fluid and exudates improved, but vision decreased to 20/200 in both the eyes within a few months; until 57y 3 new areas of choroidal neovascularization in both eyes; treatments composed of seven pegaptanib injections in the left eye, thermal laser photocoagulation in the right eye, and three intravitreal bevacizumab injections in both eyes; 61y: visual acuity: 20/ 400 both eyes, extensive subretinal fibrosis and atrophy, no active choroidal neovascularization; extensive peripheral drusen, areas of atrophy, and pigmentary changes
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Sorsby fundus dystrophy
Age/Examination	61y (61 years)
Age/Diagnosis	-
Age/Onset	48y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-25 13:41:32 +02:00 (CEST)
Date last edited	N/A