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Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia

AlEissa, Mariam M. ; Alhawsawi, Abrar A. ; Milibari, Doaa ; Schatz, Patrik LU orcid ; AlBalawi, Hani B. ; Alali, Naif M. ; Abu-Amero, Khaled K. ; Hameed, Syed and Magliyah, Moustafa S. (2025) In Genes 16(7).
Abstract

Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may... (More)

Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia’s healthcare system.

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author
; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
early-onset myopia, eye, retinal detachment, Saudi Arabia
in
Genes
volume
16
issue
7
article number
848
publisher
MDPI AG
external identifiers
  • pmid:40725504
  • scopus:105011536625
ISSN
2073-4425
DOI
10.3390/genes16070848
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2025 by the authors.
id
30caad85-c294-4774-a825-30c707d4b9f7
date added to LUP
2025-12-16 13:51:35
date last changed
2025-12-17 03:00:03
@article{30caad85-c294-4774-a825-30c707d4b9f7,
  abstract     = {{<p>Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia’s healthcare system.</p>}},
  author       = {{AlEissa, Mariam M. and Alhawsawi, Abrar A. and Milibari, Doaa and Schatz, Patrik and AlBalawi, Hani B. and Alali, Naif M. and Abu-Amero, Khaled K. and Hameed, Syed and Magliyah, Moustafa S.}},
  issn         = {{2073-4425}},
  keywords     = {{early-onset myopia; eye; retinal detachment; Saudi Arabia}},
  language     = {{eng}},
  number       = {{7}},
  publisher    = {{MDPI AG}},
  series       = {{Genes}},
  title        = {{Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia}},
  url          = {{http://dx.doi.org/10.3390/genes16070848}},
  doi          = {{10.3390/genes16070848}},
  volume       = {{16}},
  year         = {{2025}},
}