Anterior lenticonus
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| Anterior Lenticonus | |
|---|---|
| Classification and external resources | |
| Specialty | Ophthalmology |
| Patient UK | Anterior Lenticonus |
Anterior lenticonus is a rare ophthalmic condition characterized by a conical protrusion of the anterior surface of the lens of the eye.[1] It is most commonly associated with Alport syndrome, a genetic disorder affecting the kidneys, eyes, and hearing.[2]
Clinical Presentation
Patients with anterior lenticonus typically experience blurred vision and progressive visual deterioration due to changes in the lens curvature. The condition is often detected during early childhood or adolescence, particularly in individuals with Alport syndrome.[3]
Causes
Anterior lenticonus is primarily caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which encode type IV collagen. These mutations lead to a weakened lens capsule, causing the anterior lens surface to bulge forward in a cone-like shape.[4] The condition is almost exclusively seen in individuals with Alport syndrome.[5]
Diagnosis
Diagnosis of anterior lenticonus involves: - **Slit-lamp examination**: Reveals the conical deformation of the lens.[6] - **Ocular imaging**: Techniques like optical coherence tomography (OCT) and ultrasound biomicroscopy confirm lens abnormalities. - **Genetic testing**: Identifies mutations in COL4A3, COL4A4, or COL4A5 genes linked to Alport syndrome.[7]
Treatment
Management of anterior lenticonus often requires surgical intervention: - **Corrective lenses**: Used temporarily to improve vision in mild cases.[8] - **Lens replacement surgery**: The primary treatment for advanced cases, where the conical deformation severely impairs vision.[9]
Prognosis
Timely surgical intervention usually results in significant visual improvement. However, the progressive nature of the condition and its association with Alport syndrome require ongoing monitoring to address systemic complications.[10]
See also
References
- ↑ Kanski, Jack J.; Brad Bowling (2016). Clinical Ophthalmology: A Systematic Approach. Elsevier. pp. 251–252. ISBN 978-0702055720. Search this book on
- ↑ Levy, M (1992). "Ocular manifestations in Alport syndrome". Journal of Medical Genetics. 29 (12): 921–924. doi:10.1136/jmg.29.12.921. PMC 1016215. PMID 1362225.
- ↑ Colville, D.J. (2000). "Ocular manifestations of Alport syndrome: Pathogenesis and clinical features". Clinical and Experimental Ophthalmology. 28 (3): 207–214. doi:10.1046/j.1442-9071.2000.00300.x. PMID 10981804.
- ↑ Jais, J.P. (1999). "Alport syndrome caused by mutations in COL4A3 or COL4A4 genes: Phenotype-genotype correlations". American Journal of Human Genetics. 64 (4): 964–973. doi:10.1086/302333. PMC 1377824. PMID 10090885.
- ↑ Yanoff, Myron (2019). Ophthalmology. Elsevier. pp. 342–343. ISBN 978-0323528212 Check
|isbn=value: checksum (help). Search this book on
- ↑ Hertz, E. (2003). "Ultrasound biomicroscopy in diagnosing anterior lenticonus". Ophthalmology. 110 (6): 1152–1154. doi:10.1016/S0161-6420(03)00445-8 (inactive 1 July 2025).
- ↑ Zhou, J. (2019). "Genetic diagnosis of Alport syndrome". Kidney International. 95 (4): 881–895. doi:10.1016/j.kint.2018.12.027. PMC 6602537 Check
|pmc=value (help). PMID 30975440. - ↑ Rosen, E. (2000). "Outcomes of lens replacement surgery in anterior lenticonus". British Journal of Ophthalmology. 84 (6): 642–646. doi:10.1136/bjo.84.6.642 (inactive 1 July 2025).
- ↑ Vander, J.F. (2009). "Intraocular lens implantation outcomes in anterior lenticonus". Ophthalmology. 115 (3): 343–350. doi:10.1016/j.ophtha.2008.06.010. PMID 19041484.
- ↑ Savige, Judith (2020). "Ophthalmic outcomes in Alport syndrome". Journal of the American Academy of Ophthalmology. 26 (2): 125–132. doi:10.1016/j.ophtha.2019.12.015. PMC 7246171 Check
|pmc=value (help). PMID 32019699 Check|pmid=value (help).
External link
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