In Marfan syndrome, the health of the eye can be affected in many ways but the principal change is partial lens dislocation, where the lens is shifted out of its normal position … 
Pseudoexfoliation syndrome is a multifactorial disease defined by deposition of granular flakes in the anterior chamber of the eye. It is generally associated with an open angle glaucoma, rendering it one of the most common etiological factors for this disease. Pseudoexfoliation syndrome (PEX) causes granular flake…
The Ehlers-Danlos syndrome refers to a group of rare, inherited connective tissue disorders that affect collagen structure and function, marked by hyperplasticity of skin, tissue fragility and hyper-flexible joints. In the classic type, the skin is hyperelastic, fragile and smooth and velvety to touch. Skin is prone…
Nail-Patella Syndrome (NPS) is a rare autosomal dominant disorder that affects nails and bones. Some individuals have mild presentations while others experience serious renal and ocular complications. NPS is either present at birth or in early childhood. The features of the disease vary from one person to another. …
Homocystinuria is an autosomal recessive metabolic disease characterized by elevated levels of homocysteine. The most common genetic mutation involved in the disease targets cystathionine beta-synthase, an enzyme that catalyzes the conversion of methionine into cysteine. Patients with homocystinuria can present…
Turner syndrome, first described in 1938 by Henry Turner, is as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema…
Athetoid cerebral palsy is a form of cerebral palsy (CP) resulting from damage to the basal ganglia of a developing brain in a setting of bilirubin encephalopathy (Kernicterus) and hypoxic-ischemic encephalopathy. It is characterized by slow, writhing, involuntary muscle contractions. In athetoid cerebral palsy,…
Moreover, exfoliation syndrome may cause cataract or lens dislocation. … The fact that lens dislocation is observed in some ES patients supports this hypothesis. … If degeneration of zonule fibers causes lens dislocation, this may lead to monocular diplopia or glaucoma.