Insidious progression of atrophic lesions in a case of posterior polar annular choroidal dystrophy

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases

“…During this period, the patient developed posterior subcapsular cataract, cystoid macular edema, and retinal neovascularization [8]. This instance indicates that the progression of PPACD might comprehend complications common to various retinal dystrophies, highlighting the need for diligent and longer follow-up and potentially revising prognostic expectations for this condition [2,8].…”

“…First documented in 2010, posterior polar annular choroidal dystrophy (PPACD) is a rare disease with bilateral involvement prevalently characterized by atrophy of the retinal pigment epithelium (RPE) and choriocapillaris configuring a peculiar annular pattern surrounding the peripapillary region extending along the temporal vascular arcades, preferentially leaving intact the peripheral retina, foveal zone, and optic disc [1][2][3][4]. Individuals affected presented a variable age of presentation comprised between 30-68 years, in almost all the cases described, except for a single case of a young boy of unspecified age [1][2][3][5][6][7]. In the initial stages, the visual acuity can be preserved or slightly reduced, with patients complaining of night blindness [1,7].…”

“…A possible variant of the disease known as posterior polar hemispheric choroidal dystrophy (PPHCD) is characterized by similar atrophic lesions spreading along a single retinal vascular arcade following a hemispheric configuration [3]. Long-term data are limited with only two cases reporting a follow-up with the patient for over five years [2,8]. The case reported by Sone and colleagues showed progression of fundus lesions and consequent visual field deterioration suggesting the possible progressive nature of the disease [2].…”

“…Long-term data are limited with only two cases reporting a follow-up with the patient for over five years [2,8]. The case reported by Sone and colleagues showed progression of fundus lesions and consequent visual field deterioration suggesting the possible progressive nature of the disease [2]. Bommakanti and colleagues reported a PPACD case followed up for over 5 years.…”

“…Case reports currently available in the literature share a common clinical presentation, with nyctalopia usually reported as the first symptom affecting patients' quality of life with individuals experiencing difficulty seeing in low-light or dark conditions [1][2][3][5][6][7]. As the disease progresses, patients experience peripheral visual loss with arcuate scotomas on visual field testing corresponding to chorioretinal atrophy areas identified at dilated fundus examination [1].…”