Vittoria Murro1, Dario Pasquale Mucciolo2,3, Dario Giorgio1, Andrea Sodi1, Federica Boraldi4, Daniela Quaglino4, Gianni Virgili1, Fabrizio Giansanti1. 1. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. 2. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. dario.mucciolo@gmail.com. 3. Careggi Teaching Hospital, Florence, Italy. dario.mucciolo@gmail.com. 4. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Abstract
PURPOSE: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE). MATERIALS AND METHODS: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy. RESULTS: Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the "diffuse trickling" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as "coquille d'oeuf" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%). CONCLUSIONS: The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d'oeuf during the course of the disease.
PURPOSE: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE). MATERIALS AND METHODS: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy. RESULTS: Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the "diffuse trickling" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as "coquille d'oeuf" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%). CONCLUSIONS: The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d'oeuf during the course of the disease.
Authors: Qiaoli Li; Dorothy K Grange; Nicole L Armstrong; Alison J Whelan; Maria Y Hurley; Mark A Rishavy; Kevin W Hallgren; Kathleen L Berkner; Leon J Schurgers; Qiujie Jiang; Jouni Uitto Journal: J Invest Dermatol Date: 2008-09-18 Impact factor: 8.551
Authors: Johannes Birtel; Moritz Lindner; Divyansh K Mishra; Philipp L Müller; Doris Hendig; Philipp Herrmann; Frank G Holz; Monika Fleckenstein; Martin Gliem; Peter Charbel Issa Journal: Clin Exp Ophthalmol Date: 2018-11-14 Impact factor: 4.207
Authors: O Le Saux; Z Urban; C Tschuch; K Csiszar; B Bacchelli; D Quaglino; I Pasquali-Ronchetti; F M Pope; A Richards; S Terry; L Bercovitch; A de Paepe; C D Boyd Journal: Nat Genet Date: 2000-06 Impact factor: 38.330
Authors: Martin Gliem; Julie De Zaeytijd; Robert P Finger; Frank G Holz; Bart P Leroy; Peter Charbel Issa Journal: Front Genet Date: 2013-04-04 Impact factor: 4.599