Patients with Weill-Marchesani syndrome can be thought of as clinical opposites of patients with Marfan syndrome in that the former are characteristically short, with brachydactyly and short limbs. Inheritance can be autosomal dominant or recessive. The lenses are microspherophakic. With time, the lenses dislocate anteriorly into the anterior chamber, which may result in pupillary block glaucoma. For this reason, prophylactic laser peripheral iridectomy has been recommended; lensectomy may be required.

Sulfite Oxidase Deficiency

Sulfite oxidase deficiency (molybdenum cofactor deficiency) is a very rare hereditary disorder of sulfur metabolism manifested by severe neurologic disorders and ectopia lentis. The enzyme deficiency interferes with conversion of sulfite to sulfate, resulting in increased excretion of sulfite in the urine. The diagnosis can be confirmed by the absence of sulfite oxidase activity in skin fibroblasts. Neurologic abnormalities include infantile hemiplegia, choreoathetosis, and seizures. Irreversible brain damage and death usually occur by age 5.

Treatment

Optical correction

Optical correction of the refractive error caused by lens dislocation is often difficult. With mild subluxation, the patient may be only myopic, and corrected visual function may be good. More severe dislocation causes optical distortion, because the patient is looking through the far periphery of the lens. Because the resultant myopic astigmatism is difficult to measure accurately by retinoscopy or automated refractometry, using an aphakic correction may provide the patient with superior vision. Predilation and postdilation refractions are often helpful for the ophthalmologist and patient in deciding on the best choice. If satisfactory visual function cannot be obtained with optical correction or if visual function worsens, lens removal should be considered.

Surgery

Subluxated lenses can be removed either from the anterior segment through a limbal incision or posteriorly through the pars plana. In most circumstances, complete lensectomy is indicated. Lens removal is easier when the lens is not severely subluxated.

In the United States, contact lenses or glasses are usually used for postoperative vision rehabilitation, with good visual results. Scleral-sutured IOLs should be used with caution because of the high rate of suture breakage. In the Netherlands, an iris-claw lens (Artisan, Ophtec BV, Groningen, the Netherlands) is widely used instead of scleral-sutured IOLs. This lens is currently available for compassionate use only in the United States.

Cleary C, Lanigan B, O’Keeffe M. Artisan iris-claw lenses for the correction of aphakia in children following lensectomy for ectopia lentis. Br J Ophthalmol. 2012;96(3):419–421.