Axenfeld-Rieger syndrome diagnosed in adulthood: A case report

Axenfeld-Rieger Syndrome is a rare congenital disorder that affects the anterior segment of the eye and is often accompanied by systemic anomalies. Although it is typically diagnosed in childhood, some cases go undetected until adulthood, particularly when the ocular phenotype is subtle and glaucoma develops later. We report a case of a 40-year-old male diagnosed with Axenfeld-Rieger Syndrome, emphasizing the ocular and systemic findings, diagnostic challenges, and management strategies. This case also underscores the importance of genetic counseling, as it can provide crucial information and support to patients and their families, helping them understand the genetic basis of the syndrome and make informed decisions about their offspring’s health.

Authors

Publication Details

Journal
International Journal of Medical Ophthalmology
Published
2025-01-01
DOI
https://doi.org/10.33545/26638266.2025.v7.i1a.225
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Axenfeld-Rieger syndrome diagnosed in adulthood: A case report

Miguel Angel Herrero Delicado
International Journal of Medical Ophthalmology
Genetic factors in colorectal cancer
article

Axenfeld-Rieger syndrome diagnosed in adulthood: A case report

Miguel Angel Herrero Delicado
article en

Abstract

Axenfeld-Rieger Syndrome is a rare congenital disorder that affects the anterior segment of the eye and is often accompanied by systemic anomalies. Although it is typically diagnosed in childhood, some cases go undetected until adulthood, particularly when the ocular phenotype is subtle and glaucoma develops later. We report a case of a 40-year-old male diagnosed with Axenfeld-Rieger Syndrome, emphasizing the ocular and systemic findings, diagnostic challenges, and management strategies. This case also underscores the importance of genetic counseling, as it can provide crucial information and support to patients and their families, helping them understand the genetic basis of the syndrome and make informed decisions about their offspring’s health.

International Journal of Medical OphthalmologyVol. 7(1)
Gender equality
Openalex Percentile: Top 92%
Genetic factors in colorectal cancer
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