Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases
Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal...
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MDPI AG
2024-02-01
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| Series: | Current Issues in Molecular Biology |
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| Online Access: | https://www.mdpi.com/1467-3045/46/2/89 |
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| author | Francesco Ruggeri Chiara Ciancimino Antonio Guillot Daniele Fumi Federico Di Tizio Serena Fragiotta Solmaz Abdolrahimzadeh |
| author_facet | Francesco Ruggeri Chiara Ciancimino Antonio Guillot Daniele Fumi Federico Di Tizio Serena Fragiotta Solmaz Abdolrahimzadeh |
| author_sort | Francesco Ruggeri |
| collection | DOAJ |
| description | Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies. |
| first_indexed | 2024-03-07T22:38:12Z |
| format | Article |
| id | doaj.art-ea5e93b7721b4eed8f6dad63aaa4ab41 |
| institution | Directory Open Access Journal |
| issn | 1467-3037 1467-3045 |
| language | English |
| last_indexed | 2024-03-07T22:38:12Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Issues in Molecular Biology |
| spelling | doaj.art-ea5e93b7721b4eed8f6dad63aaa4ab412024-02-23T15:12:37ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452024-02-014621383139710.3390/cimb46020089Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal DiseasesFrancesco Ruggeri0Chiara Ciancimino1Antonio Guillot2Daniele Fumi3Federico Di Tizio4Serena Fragiotta5Solmaz Abdolrahimzadeh6Ophthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Roma, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Roma, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Roma, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Roma, ItalySt. Andrea Hospital, Via di Grottarossa 1035/1039, 00189 Rome, ItalyUOC Ophthalmology, Department of Surgical Areas, S.M. Goretti Hospital, 04100 Latina, ItalyOphthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Roma, ItalyPosterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.https://www.mdpi.com/1467-3045/46/2/89posterior polar annular choroidal dystrophymultimodal imagingspectral domain optic coherence tomographyretinal pigment epitheliuminherited retinal diseaseschoroideremia |
| spellingShingle | Francesco Ruggeri Chiara Ciancimino Antonio Guillot Daniele Fumi Federico Di Tizio Serena Fragiotta Solmaz Abdolrahimzadeh Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases Current Issues in Molecular Biology posterior polar annular choroidal dystrophy multimodal imaging spectral domain optic coherence tomography retinal pigment epithelium inherited retinal diseases choroideremia |
| title | Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases |
| title_full | Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases |
| title_fullStr | Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases |
| title_full_unstemmed | Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases |
| title_short | Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases |
| title_sort | posterior polar annular choroidal dystrophy genetic insights and differential diagnosis in inherited retinal diseases |
| topic | posterior polar annular choroidal dystrophy multimodal imaging spectral domain optic coherence tomography retinal pigment epithelium inherited retinal diseases choroideremia |
| url | https://www.mdpi.com/1467-3045/46/2/89 |
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