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Sorsby‘s Fundus Dystrophy
Sorsby‘s fundus dystrophy (SFD) is a rare, autosomal dominant inherited retinal disease with complete penetrance affecting both genders similarly, typically becoming symptomatic after the second decade of life, with an average onset in the 4th to 5th decade of life, leading to severe bilateral vision loss and blindness if left untreated.
2. Case report
A 51-year-old male presented at the age of 33 years with a first episode of simultaneous vision loss in both eyes in January 2004. He related a positive family history of SFD, as his father, uncle, as well as other first-degree relatives, had previously been diagnosed with SFD. Fluorescein angiography demonstrated a juxtafoveal, classical MNV in the right eye and a small, subfoveal, predominantly classic MNV in the left eye. Genetic testing revealed a mutation in the TIMP3 gene. Until January 2005, the patient received three and four sessions of full-fluence PDT using a standard dose (6mg) of verteporfin (Novartis Inc., Basel, Switzerland) in his right and left eye each, respectively, along with parabulbar triamcinolone injections. With treatment, a stable course in the right eye contrasted to repeated re-activations of the subretinal MNV in his left eye. Therefore, he received four intravitreal injections of crystalline triamcinolone (8mg) in his left eye in the following 15 months, accompanied by a rise of intraocular pressure and cataract formation. By that time, central vision in his left eye had dropped to Snellen 0.20 due to progressive macular scarring and pigment epitheliopathy in both eyes. After the introduction of intravitreal anti-VEGF therapy for exudative maculopathy, the patient received a total of nine injections of Ranibizumab (Ran; Lucentis®, Genentech, South San Francisco, CA, USA) to control disease activity in his left eye between 2007–2012. After lesion inactivity due to macular scarring had been observed over one year, intravitreal therapy was ceased at a central Snellen vision of 0.16.
In April 2011, the patient presented with a symptomatic MNV reactivation of his right eye and 0.5 mg Ranibizumab intravitreally was initiated and continued following a pro re nata (PRN) scheme. Since April 2011, a total of 24 Ranibizumab injections were administered to the right eye, with 22 of these administered up until July 2015. The last injection was administered in July 2019. During the last FU in February 2021, the patient had a best corrected Snellen VA of 1.0 in his right eye and 0.16 in his left eye. Though functional stability was achieved over the last 10 years, progression of severity and extension of RPE changes, Drusen formation and choroidal sclerosis was evident in both eyes (Figures 1, 2, 3 and 4). Nevertheless, with consequent clinical controls and Ranibizumab treatment immediately upon first signs of lesion reactivation, his quality of life is perceived as excellent, he can follow his daily professional and private activities without relevant restrictions.
3. Visual Outcome after Intravitreal Anti-VEGF Therapy for Macular Neovascularisation Secondary to Sorsby’s Fundus Dystrophy
The entry is from 10.3390/jcm10112433
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