Ectopia pupillae

Abstract: In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented with intermittent acute intraocular hypertensive crises. Not only the high number of patients in one family, but also the occurrence in three generations is very exceptional for the ectopia lentis et pupillae syndrome. Although the syndrome is said to be inherited in an autosomal recessive mode, in this family, a mother to son and a mother to daughter transmission were present. Pedigree analysis yielded arguments in favour of an autosomal dominant inheritance with reduced penetrance. A biochemical correlation was not identified.

Abstract: To report a case of clinically unilateral congenital ectopia lentis et pupillae (ELeP) and discuss its surgical management. Interventional case report. A 37–year–old female was referred to our service for surgical management of unilateral ectopia pupillae for aesthetic reasons. On presentation the visual acuity of the affected eye was 20/400. Ultrasound exam did not show any crystalline lens dislocation, and therefore the case was considered a very rare variable of the ELeP syndrome. We proceeded to surgical correction of the pupillary ectopia. At the 3–month follow-up the patient’s visual acuity was 20/30. Although the clinical features and the genetic aspects of ELeP are documented in the older ophthalmic literature, this entity has received relatively little attention. Surgical correction of this rare disorder can be attempted for aesthetic and functional reasons.

Abstract: The authors report on their experience with Microruptor 2, Fankhauser's YAG laser. Over a period of about 18 months, approximately 500 patients with different pathological conditions of the eye were treated. The treatments were noninvasive and given to outpatients under surface anesthesia. The instrument is suitable for use in cases requiring splitting of cataract residues, in capsulotomies (also in the presence of intraocular lenses), in the treatment of iridocorneal adhesions, in the prophylaxis of acute attacks of glaucoma, in ectopia pupillae, and in selected cases of vitreous membranes and strands.

Abstract: The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.