Phenotype #0000297407

Individual ID	00404843
Associated disease	-
Phenotype details	33y: best-corrected visual acuity (BCVA) right/left eye: 20/100 / 20/250 in the left eye; ophthalmoscopy: right eye showed a sharply circumscribed vitelliform lesion in the center of the macula characteristic of pattern dystrophy primarily involving the retinal pigment epithelium, left eye showed a scar from choroidal neovascularization (CNV) that had developed 5 years before this initial decline in vision in the right eye; fluorescein angiography (FA) of the right eye in the early phase frames: hyperfluorescence corresponding to the extent of the vitelliform material with staining of this material but no definitive leakage in the late phase frames; visual acuity right eye gradually improved from 20/100 to 20/50 (5m) and 20/25 (9m later) with decreasing visualization of the vitelliform material on fundus photographs, FA: stable or slightly decreased staining of the material; optical coherence tomography: hyperreflective material in the subretinal space (2m) replaced by a hyporeflective area (5m and 9m of follow-up. 16m after reaccumulation of the visible vitelliform material, which became denser over the following 15 months. Optical coherence tomography: accumulation of the subretinal material of increased reflectivity on vertical cross sections; visual acuity remained stable at 20/25 until 31m after initial visit; 9 days after that urgent evaluation of an enlarged scotoma in the right eye for the last 2 days; visual acuity declined to 20/100 within the inferior margin of the lesion, fundus photography: less dense vitelliform material, FA: smaller area of hypofluorescence; FA: no fluorescein leakage from CNV on late phase frames; optical coherence tomography continued to show a large amount of the subretinal material of increased reflectivity; next 8 months, BCVA gradually improved to 20/25, correlating with decreasing amounts of the vitelliform material on red-free fundus photography and FA; optical coherence tomography: hyperreflective material in the subretinal space replaced by a hyporeflective area as the vitelliform material became less apparent on fundus photography. Next 18 months, visual acuity was stable, during which time the dense vitelliform material again appeared, disappeared, and reappeared within the inferior margin of the lesion on fundus photographs and late phase frames of FA; OCT changes reflected FA changes. 4m later (5y1m after initial visit) BCVA 20/125, FA: dense vitelliform material in the inferior half of the circular lesion; no leakage from CNV; OCT: large amount of the subretinal material of increased reflectivity, after 2m BCVA 20/63, 5m- 20/50, correlating with decreasing amounts of the vitelliform material in his right macula; 66-month follow-up visit: new subretinal hemorrhage was noted on a fundus photograph in the right eye; subretinal hemorrhage associated with CNV right eye,FA: distinctly abnormal vessels from CNV within the center of the macular lesion apparent in the early phase frame, corresponding with a hyperreflective area on the OCT. intravitreous injection of 0.5 mg ranibizumab in the right eye. 3m later stable BCVA, fundus photographs: resolution of subretinal hemorrhages, FA: staining of his CNV lesion in the early phase frames, with no new leakage in late phase frames to warrant
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	dystrophy, macular, vitelliform type 2 (VMD2)
Age/Examination	39y (39 years)
Age/Diagnosis	>20y
Age/Onset	-
Phenotype/Onset	-
Protein	anna_tracewska
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-09 14:17:37 +01:00 (CET)
Date last edited	2022-03-09 14:19:09 +01:00 (CET)