It is often characterized by mental handicap, osteoporosis, chest abnormalities, atherosclerosis, and increased incidence of thrombosis. There occurs systemic accumulation of methionine and homocysteine. The condition is autosomal recessive, and there is a deficiency of enzyme cystathionine b- synthetase. This is the second most common etiology for inheritable ectopia lentis. The systemic features can be short stature, short fingers of hands and toes, brachydactyly, and delayed milestones resulting in learning difficulty. The other common ocular manifestations can be microspherophakic and pupillary block glaucoma. It can be seen in adolescence or early adulthood. Ectopia lentis is seen in approximately 50% with inferior lens subluxation. The gene involved is FBN1 (polymorphisms), and it can be autosomal dominant or recessive. It is the reverse of Marfan's syndrome, in which the primary defect is in the connective tissue. Other features- Secondary glaucoma, lattice retinal degeneration, retinal detachment, microspherophakic lens, strabismus, and hypoplasia of dilator pupillae. The iris atrophy is evident and appears as a transillumination defect on the slit lamp. There is minimal pupillary dilatation, and the lens displacement is usually bilateral and asymmetric. The pupil becomes asymmetric, eccentric, oval, and ectopic. In this, the pupil and lens are displaced in opposite directions. This is a rare and congenital autosomal recessive condition. With lens dislocation, there also occur vitreous prolapse through weak zonular fibers. Spontaneous, simple ectopia lentis is usually reported in the age group of 20 to 65 years. The congenital and spontaneous variety can be associated with cataracts, retinal detachment, or secondary glaucoma. Hence there occurs a significant genetic overlap between simple ectopia lentis and systemic diseases like Marfan syndrome. įBN1 gene mutation has also been reported in Marfan syndrome. In autosomal dominant inheritance, a mutation in the FBN1 gene located on chromosome 15 has been reported. In autosomal recessive inheritance, a mutation in the ADAMTSL4 gene on chromosome 1 has been reported. In simple ectopia lentis, the lens displacement is usually bilateral and supero-temporal, and the degree of displacement varies between the two eyes. Autosomal recessive inheritance is rare and is reported in families with a history of consanguineous marriage. Both can be autosomal dominant or recessive. It can be congenital or acquired later spontaneously. Ocular Disease and Associations of Ectopia Lentis In case of minor traumatic injury, other causes and associations of ectopia lentis should be ruled out. Traumatic ectopia lentis can be present at birth or manifest at any age. It can occur secondary to blunt trauma to the head and eye or directly impact the eye. Įctopia lentis can be a manifestation of trauma, ocular pathology, or systemic disease. The etiology of ectopia lentis is broadly grouped as congenital, traumatic, metabolic/syndromic, and consecutive/spontaneous. The patient's visual outcome depends on the degree and extent of subluxation or dislocation and the presence and absence of complications. The pediatrician also plays a crucial role in ruling out familial disorders. Family members should also be evaluated to pinpoint the genetic association. A thorough ocular and systemic examination help in clinching the diagnosis. The patient should be questioned regarding cardiovascular, skeletal, and any other ocular abnormalities. Ī detailed past and systemic history are necessary in each case. This is a disorder with varied etiologies. Ectopia lentis can be a primary manifestation of a systemic disorder and should arouse suspicion of underlying systemic pathology. The lens can be seen in the anterior chamber, vitreous phase, or retinal surface. The cause can be traumatic or secondary to underlying systemic disease. The lens can be subluxated or dislocated away from the patellar fossa. It can be hereditary (familial) or acquired. Later, Stellwag was the first to name it ectopia lentis in 1856 in a patient with congenital dislocation of the lens. The first report came from Berry, who documented the first case of lenticular dislocation in 1749. Ectopia lentis refers to the hereditary or acquired malposition of the natural crystalline lens out of the patellar fossa.
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