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Ophthalmology – Ehlers–Danlos Syndrome
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, hyperextensible skin, and tissue fragility. It encompasses several subtypes, including the classic, hypermobility, vascular, kyphoscoliosis (ocular-scoliotic), arthrochalasis, dermatosparaxis, and tenascin-X–deficient types, each with varying systemic and ocular involvement. The kyphoscoliosis type is particularly important in ophthalmology due to its association with globe fragility and severe ocular complications.
EDS has an estimated prevalence of 1 in 5,000–10,000 individuals, though milder forms may go undiagnosed. The condition arises from genetic mutations affecting collagen synthesis or structure, involving genes such as COL1A2, COL3A1, COL5A1, COL5A2, and others. Depending on the subtype, inheritance may be autosomal dominant or autosomal recessive. These mutations result in defective collagen, particularly types I and III, leading to weakened connective tissues throughout the body.
Clinically, patients often present with soft, hyperextensible, fragile skin, easy bruising, and joint laxity with frequent dislocations. Poor wound healing and abnormal scarring are common. Systemic manifestations may include cardiac abnormalities (such as mitral valve prolapse), gastrointestinal issues, and musculoskeletal deformities like scoliosis or flat feet.
Ocular involvement is diverse and clinically significant. Patients may develop retinal detachment, retinal hemorrhages, keratoconus, lens subluxation (ectopia lentis), glaucoma, strabismus, and severe myopia. Other notable features include blue sclera, angioid streaks, dry eye symptoms, and in severe cases, globe rupture due to scleral fragility. These findings highlight the importance of regular ophthalmologic monitoring in affected individuals.
Diagnosis is primarily clinical, supported by genetic testing and specialized studies such as collagen analysis. Additional evaluations may include echocardiography to assess cardiac involvement. Histologically, collagen fibers appear irregular, sparse, and disorganized. There are no routine screening laboratory tests, but targeted testing is guided by suspected subtype.
Management of EDS is largely supportive, as there is no definitive cure. Patients are advised to avoid trauma and contact sports, particularly in high-risk subtypes such as vascular EDS. Vitamin C supplementation may be recommended as it plays a role in collagen synthesis, though evidence is limited. Surgical procedures require special caution due to poor wound healing and increased bleeding risk.
Ongoing care involves a multidisciplinary approach, including ophthalmology, cardiology, orthopedics, and genetics. Regular eye examinations are essential to monitor for complications such as retinal detachment or glaucoma. Genetic counseling is strongly recommended, especially for family planning.
The prognosis varies by subtype. Many individuals have a normal lifespan, particularly in milder forms, but more severe types—especially the vascular and kyphoscoliosis forms—carry risks of arterial rupture, organ rupture, and ocular complications, which can be life-threatening.
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, hyperextensible skin, and tissue fragility. It encompasses several subtypes, including the classic, hypermobility, vascular, kyphoscoliosis (ocular-scoliotic), arthrochalasis, dermatosparaxis, and tenascin-X–deficient types, each with varying systemic and ocular involvement. The kyphoscoliosis type is particularly important in ophthalmology due to its association with globe fragility and severe ocular complications.
EDS has an estimated prevalence of 1 in 5,000–10,000 individuals, though milder forms may go undiagnosed. The condition arises from genetic mutations affecting collagen synthesis or structure, involving genes such as COL1A2, COL3A1, COL5A1, COL5A2, and others. Depending on the subtype, inheritance may be autosomal dominant or autosomal recessive. These mutations result in defective collagen, particularly types I and III, leading to weakened connective tissues throughout the body.
Clinically, patients often present with soft, hyperextensible, fragile skin, easy bruising, and joint laxity with frequent dislocations. Poor wound healing and abnormal scarring are common. Systemic manifestations may include cardiac abnormalities (such as mitral valve prolapse), gastrointestinal issues, and musculoskeletal deformities like scoliosis or flat feet.
Ocular involvement is diverse and clinically significant. Patients may develop retinal detachment, retinal hemorrhages, keratoconus, lens subluxation (ectopia lentis), glaucoma, strabismus, and severe myopia. Other notable features include blue sclera, angioid streaks, dry eye symptoms, and in severe cases, globe rupture due to scleral fragility. These findings highlight the importance of regular ophthalmologic monitoring in affected individuals.
Diagnosis is primarily clinical, supported by genetic testing and specialized studies such as collagen analysis. Additional evaluations may include echocardiography to assess cardiac involvement. Histologically, collagen fibers appear irregular, sparse, and disorganized. There are no routine screening laboratory tests, but targeted testing is guided by suspected subtype.
Management of EDS is largely supportive, as there is no definitive cure. Patients are advised to avoid trauma and contact sports, particularly in high-risk subtypes such as vascular EDS. Vitamin C supplementation may be recommended as it plays a role in collagen synthesis, though evidence is limited. Surgical procedures require special caution due to poor wound healing and increased bleeding risk.
Ongoing care involves a multidisciplinary approach, including ophthalmology, cardiology, orthopedics, and genetics. Regular eye examinations are essential to monitor for complications such as retinal detachment or glaucoma. Genetic counseling is strongly recommended, especially for family planning.
The prognosis varies by subtype. Many individuals have a normal lifespan, particularly in milder forms, but more severe types—especially the vascular and kyphoscoliosis forms—carry risks of arterial rupture, organ rupture, and ocular complications, which can be life-threatening.
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