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. 2025 Jan;197(1):e63869.
doi: 10.1002/ajmg.a.63869. Epub 2024 Sep 12.

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

Oscar F Chacon-Camacho  1   2 , Thania Ordaz-Robles  1   3 , Marion A Cid-García  1 , Olivia Yepes-Rodríguez  4   5 , Rocio Arce-González  1 , Alan Martínez-Aguilar  1 , Juan Carlos Zenteno  1   6   7
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A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

Oscar F Chacon-Camacho et al. Am J Med Genet A. 2025 Jan.

Abstract

Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF-containing fibulin-like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult-onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non-p.Arg345Trp EFEMP1 pathogenic allele.

Keywords: EFEMP1; Doyne honeycomb retinal dystrophy; juvenile glaucoma; malattia leventinese.

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References

    1. Abu‐Amero, K. K., J. Morales, L. A. Aljasim, and D. P. Edward. 2015. “CYP1B1 Mutations Are a Major Contributor to Juvenile‐Onset Open Angle Glaucoma in Saudi Arabia.” Ophthalmic Genetics 36, no. 3: 184–187.
    1. Bayat, B., S. Yazdani, A. Alavi, et al. 2008. “Contributions of MYOC and CYP1B1 Mutations to JOAG.” Molecular Vision 14: 508–517.
    1. Bock, A. S., S. Günther, J. Mohr, et al. 2018. “A Nonstop Variant in REEP1 Causes Peripheral Neuropathy by Unmasking a 3'UTR‐Encoded, Aggregation‐Inducing Motif.” Human Mutation 39, no. 2: 193–196.
    1. Chiang, T. K., and M. Yu. 2023. “Electrophysiological Evaluation of Macular Dystrophies.” Journal of Clinical Medicine 12, no. 7: 1430.
    1. Collantes, E. R. A., M. S. Delfin, B. Fan, et al. 2022. “EFEMP1 Rare Variants Cause Familial Juvenile‐Onset Angle Glaucoma.” Human Mutation 43, no. 1: 240–252.

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