Diagnosis Of Chrdl 1 Mutation As A Cause Of Recurrent Rotation Of Toric Lenses

The aim of this study is to describe one of the possible complications of the mutation in the CHRDL1 gene, which can complicate cataract surgery with toric lenses.

Tertiary referral hospital Fundación Jiménez Díaz, Madrid, Spain.

A 37-year-old male was diagnosed with preseniles cataracts. As personal history presents an episode of acute anterior uveitis and doubtful retrobulbar optic neuritis in the context of multiple sclerosis. At the ophthalmological examination he presented a corrected visual acuity improvement in the right eye (OD) of 0.8 and in the left eye (OI) of 0.8+2. Biomicroscopy showed cataracts with cortical, nuclear and posterior subcapsular components in both eyes (OU), guttas and persistence of pupillary membrane remains in OU. In the topography presented regular astigmatism susceptible to monofocal toric hydrophobic lens in OU. Facoemulsification was carried out with double shield technique. In the OI, the patient presented an early rotation of the lens in the frontal plane so it was decided to reinterven for the relocation of the lens. After this second intervention, a new rotation of the lens was observed, so a second relocation of the lens and the implant of a capsular tension ring were decided, achieving stabilization. It was decided to send the patient for genetic study being diagnosed with a mutation in the CHRDL1 gene.

Cataract surgery with toric lenses is a regulated surgery with usually satisfactory results and a low rate of recurrence. Although rare, there is the possibility that the rotation of the lens is due to anatomical alterations underlying the crystalline size, sac or zonular hyperlaxity, which should be studied in patients with recurrent rotations.

The mutation in the CHRDL1 gene present in Xq12-q26 is characterized by the presence of megalocornea, decreased corneal thickness, increased anterior chamber, lens subluxation and posterior polymorphic corneal dystrophy.