Ectopia Len tis et Pupillae

Ectopia lentis et pupillae

“…Other possible findings are: microspherophakia, transillumination of the iris in the periphery caused by the posterior pigmented layer malformation, iridodonesis, pupillary membrane persistence, proeminent iris processes, lens displacement in anterior chamber or vitreous, megalocornea, corneal astigmatism, posterior embriotoxon, strabismus and high axial myopia (1,3,(6)(7)(8)(9)(10) . Despite the frequent association with megalocornea, the patient studied had normal corneal diameters.…”

“…For autosomal recessive pattern, there may be consanguineous pedigree (1,6) . In our patient, as described in the literature, both the pupils have limited dilation and oval shape, superiorly displaced in the right and superior nasal in left, iridodonesis, remnants of pupillary membrane, proemients iris processes and subluxation of the lenses.…”

“…This anomaly limited to the eye is autosomal recessive with variable expressivity between the two eyes of the patient and family members (1,3,(6)(7)(8)(9)(10) .…”

“…The early diagnosis may influence the patient, minimizing the expression of disease, such as in homocystinuria and hyperlisinemia (1,2,5) .…”

“…T he identification of ectopia lentis as a manifestation of a genetic syndrome or systemic disease is extremely important because the medical care of these patients, including complete ophthalmological and clinical examinations, should cover genetic counseling, in addition to diagnosis, possible complications and appropriate treatment (1)(2)(3)(4) .…”