Author: Martina Jarc-Vidmar (Slovenia)
Co-authors: Ana Fakin, Maja Sustar, Marija Volk, Polona Jaki-Mekjavic, Marko Hawlina
Purpose
To report the result of anti-VEGF treatment in a patient with CNV secondary to AD Sorsby fundus dystrophy with confirmed heterozygous likely pathogenic variant in TIMP3 gene (NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys)), and to describe phenotye in her sister and niece.
Setting/Venue
Eye Hospital, University Medical Centre Ljubljana, Slovenia
Methods
Three patients from the same family (57years old lady, her 61 years old sister and 30 years old niece) with Sorsby retinal dystrophy with confirmed TIMP3 mutation underwent ophthalmological examination including visual acuity measurement (VA) and multimodale imaging (autofluorescence, fluorescein angiography, ICG and OCT) and electrophysiology testing (ISCEV standards).
Results
The 57 yrs old patient with PEX syndrome manifested 20 years ago with symptoms of night blindness. Ishihara and visual acuity was normal, visual fields showed paracentral scotoma, dystrophic changes with drusae and atrophic changes were seen on the fundus. Electrophysiology showed normal PERG 50, borderline N95 response and abnormal photopic and scotopic ERG. She experienced sudden worsening of vision in her left eye at the age of 56 years. CNV secondary to Sorsby dystrophy was confirmed with fluorescein angiography and ICG, first in the left, later also on the right eye.OCT showed fibroavacular PED with serosis, and thickened Bruch's membrane. Blockage of fluorescence was seen on ICG in late phases. After 4 injections of antiVEGF (Ranibizumab) in her right eye and 14 injections in her left eye VA improved (ETDRS RE: 47 to 53, LE: 57 to 70), due to regression of CNV. Her sister had dystrophic retinal changes with good vision in right eye and poor VA in the left eye due to amblyopia. Electrophysiology showed abnormal PERG 50 and N95 reponses and abnormal photopic and scotopic ERG. The niece had good vision with early signs of bilateral retinal dystrophy.
Conlusions
Sorsby retinal dystrophy manifests first with symptoms of night blindness and paracentral scotoma in the visual field. Sudden visual loss later on may be due to secondary CNV. In our patient it responded well to treatment with antiVEGF. It is important to regulary follow other family members with retinal changes, as CNV may develop in the future; with timely treatment permanent vision drop can be postponed.
Financial Disclosure
none
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