[Primary conjunctival-palpebral lymphedema and Milroy disease]

Area of Science:

• Ophthalmology
• Genetics
• Vascular Biology

Background:

• Lymphedema refers to tissue swelling caused by accumulation of lymph fluid that is not drained properly by the lymphatic system.
• Hereditary lymphedema encompasses a group of genetic disorders characterized by primary lymphedema, often presenting at birth or early in life.
• Milroy's disease, also known as hereditary lymphedema type I, is a rare autosomal dominant disorder affecting lymphatic development.

Observation:

• An 18-year-old female presented with chronic swelling of both upper and lower extremities.
• The patient exhibited bilateral eyelid and conjunctival lymphedema, indicating ocular involvement.
• This presentation suggests a potential link between hereditary lymphedema and specific ocular manifestations.

Findings:

• The observed ocular swelling (blepharal and conjunctival lymphoedema) is identified as an ocular manifestation of Milroy's disease.
• The case underscores that primary lymphedema, such as Milroy's disease, can present with significant ophthalmic features.
• Discussion includes the potential occurrence of both primary and secondary forms of lymphedema and their respective characteristics.

Implications:

• Recognizing ocular manifestations is crucial for the comprehensive diagnosis and management of Milroy's disease.
• This case broadens the understanding of the phenotypic spectrum of hereditary lymphedema disorders.
• Further research into the genetic and molecular mechanisms underlying ocular lymphatic abnormalities in lymphedema is warranted.