The first reported case of <i>CDH3</i>-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report

Zubi, Khalid Al; Mwafi, Nesrin; Alrawashdeh, Hamzeh Mohammad; Sarireh, Fawaz Al; Somkuwar, Areej; Abdulmannan, Dina

doi:10.1080/13816810.2022.2028298

Cited by 1 publication

(1 citation statement)

References 30 publications

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“…Cell-cell adhesion glycoprotein [36,37] Cadherin-related protein, may play a role in cell adhesion [36,37] 16q22.1 [36,37] EFEMP1 Extracellular matrix protein [38] Associated with the extracellular matrix and may influence eye development [38] 2p16.1 [38] ELOVL4 Membrane-bound protein [39,40] Involved in the elongation of very long-chain fatty acids [39][40][41] 6q14.1 [39][40][41] IMPG1…”

Section: Cdh3mentioning

confidence: 99%

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

Ruggeri,

Ciancimino,

Guillot

et al. 2024

CIMB

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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.

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