P257: AP-5 complex variants cause macular dystrophy: A case series

Genetics in Medicine Open 2026 Open access

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Authors: Michael Sibulo, Kati Veres, Melissa Reeves, Amelia Naik, Ranya Al Rawi, Yuri Sergeev, Ehsan Ullah, Zhiyu Li, Aime R. Agather, Delphine Blain, Wadih Zein, Kerry Ashby
+3 more Santa J. Tumminia, Laryssa A. Huryn, Bin Guan
DOI: 10.1016/j.gimo.2026.103751
Cited by: 0

Abstract

Macular dystrophies (MD) are a subset of genetically and phenotypically heterogeneous inherited retinal diseases (IRDs). A recent report implicates the adaptor protein-5 (AP-5) complex as a new and rare cause of hereditary MDs. The AP-5 complex, composed of four core subunits and two accessory proteins, is essential for RPE lysosomal and phagocytic activities. One of its core subunits, encoded by AP5Z1, was previously associated with hereditary spastic paraplegia (HSP) type 48. The disease spectrum is poorly understood due to the limited number of cases presented, and the prevalence of the AP-5 pathogenic variants in IRD patients is unknown.

Fields of Study & Subjects

Retinal Development and Disorders Retinal Diseases and Treatments Cellular transport and secretion

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103751–103751
Publication date
1 January 2026
Language
EN