Ophthalmological Manifestations of Lymphedema-Distichiasis Syndrome

Moussa Al-Rufayie

Introduction

Lymphedema-Distichiasis Syndrome (LDS) is an autosomal dominant disorder resulting from mutations in the FOXC2 gene (1). The syndrome manifests typically with primary lymphedema, usually starting around puberty, and an additional row of eyelashes arising from the meibomian glands, known as distichiasis. Ophthalmological involvement in LDS can lead to various complications, necessitating comprehensive understanding and management by ophthalmologists (2).

Clinical Features

The primary ophthalmological feature of LDS is distichiasis, which can cause significant ocular surface irritation. Patients may present with symptoms such as foreign body sensation, photophobia, tearing, and recurrent conjunctivitis. Chronic irritation can lead to more severe complications, including keratitis, corneal ulceration, and scarring, potentially resulting in vision impairment. Other ocular manifestations may include ptosis and strabismus. The presence of distichiasis may be detected during routine slit-lamp examination, revealing an additional row of lashes on the eyelid margin, often directed towards the ocular surface (3).

Diagnosis

Diagnosis of LDS involves a combination of clinical examination and genetic testing. The presence of primary lymphedema and distichiasis warrants a suspicion of LDS. Genetic testing for mutations in the FOXC2 gene confirms the diagnosis via sanger sequencing (4). Ophthalmological examination should be thorough, assessing for any signs of corneal damage and eyelid abnormalities.

Management

Management of ophthalmological manifestations in LDS focuses on alleviating symptoms and preventing complications. Regular removal of abnormal eyelashes through epilation or electrolysis is essential to reduce irritation and prevent ocular surface damage. Epilation involves manually removing the eyelashes, which regrow and require repeated treatments, while electrolysis uses an electric current to destroy hair follicles more permanently but may cause pain and scarring. For significant corneal damage or persistent symptoms, surgical interventions such as cryotherapy or laser ablation can be considered. Cryotherapy freezes the hair follicles to prevent regrowth, while laser ablation uses a focused beam to achieve the same effect. Both methods can cause scarring and changes in eyelid function. Lubricating ointments and artificial tears are used to alleviate dry eye symptoms, and topical anti-inflammatory drugs may reduce inflammation. Regular follow-up with an ophthalmologist is essential to monitor the condition and manage complications promptly (5).

Conclusion

Lymphedema-Distichiasis Syndrome presents unique challenges in ophthalmological practice. Early diagnosis and proactive management of ocular manifestations are crucial in preserving vision and improving the quality of life for affected individuals. Further research into the pathophysiology and treatment of LDS will enhance our ability to care for these patients effectively (6).

References

  1. Tavian D, Missaglia S, Maltese PE, Michelini S, Fiorentino A, Ricci M, et al. FOXC2disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. Oncotarget. 2016 Jun 2;7(34):54228–39. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342337/
  2. Kolin T. Hereditary Lymphedema and Distichiasis. Archives of Ophthalmology. 1991 Jul 1;109(7):980. Available from : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693661/#:~:text=Lymphedema%2Ddistichiasis%20syndrome%20is%20an,to%20proper%20evaluation%20and%20treatment.
  3. Singh S. Distichiasis: An update on etiology, treatment and outcomes. Indian Journal of Ophthalmology. 2022;70(4):1100. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240497/
  4. Rakhmanov Y, Maltese PE, Paolacci S, Marinelli C, Bertelli M. Genetic testing for lymphedema-distichiasis syndrome. The EuroBiotech Journal. 2018 Sep 1;2(s1):13–5. Available from: https://sciendo.com/article/10.2478/ebtj-2018-0026
  5. Mansour S, Brice GW, Jeffery S, Mortimer P. Lymphedema-Distichiasis Syndrome [Internet]. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al., editors. PubMed. Seattle (WA): University of Washington, Seattle; 1993 [cited 2024 Jun 20]. Available from: https://pubmed.ncbi.nlm.nih.gov/20301630/
  6. Senger JLB, Kadle RL, Skoracki RJ. Current Concepts in the Management of Primary Lymphedema. Medicina. 2023 May 6;59(5):894–4. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10222882/

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