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Ectopia Lentis Et Pupillae: the Genetic Aspects and Differential Diagnosis

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Ectopia Lentis Et Pupillae: the Genetic Aspects and Differential Diagnosis J Med Genet: first published as 10.1136/jmg.28.11.791 on 1 November 1991. Downloaded from J Med Genet 1991; 28: 791-794 791 Ectopia lentis et pupillae: the genetic aspects and differential diagnosis A Colley, I C Lloyd, A Ridgway, D Donnai Abstract There was vitreous in the anterior chamber tem- Two sib pairs and a fifth child are described poral to both lenses. There was a visual acuity of with autosomal recessive ectopia lentis et 6/24 in the right eye and 6/18 in the left. This pupillae. Patients with this disorder need reg- remained unchanged until the age of 14 years when ular ophthalmic review, but do not have the the left eye developed a low degree of myopia and an skeletal and metabolic complications associ- alternating divergent squint was noted. At 18 years ated with other syndromes with ectopia lentis. of age a lens opacity was seen at the nasal border of the right pupil and there was further subluxation of the lenses. At present he is registered as partially Dislocation of the lens not only causes visual dis- sighted. turbance but frequently is a sign that a subject has a On examination at 20 years of age his height was systemic disorder. Ectopia lentis et pupillae, an 173 cm (25th centile), head circumference 60 cm abnormality characterised by displaced lenses and (>98th centile), and his upper to lower segment pupils, is a recessively inherited condition without ratio was 141 (>98th centile). He had no other associated systemic abnormalities and thus carries a dysmorphic features, no signs of Marfan syndrome different prognosis. We present three families, dis- or a connective tissue disorder, and his urine amino cuss the differential diagnosis, and emphasise the acid screen was negative. Both parents have normal copyright. importance of recognising congenital ectopia lentis eyes and there is no relevant family history. et pupillae for management. Case reports CASES 2 AND 3 Two male sibs of a CASE 1 non-consanguineous English A male, born to a non-consanguineous English couple were both born at term after normal pregnan- couple who had two normal sons and had had three cies and deliveries. The mother noticed that the first trimester spontaneous abortions, was the pro- older boy had asymmetrically placed pupils at the http://jmg.bmj.com/ duct of their sixth pregnancy and weighed 4250 g at age of 3 months and a 'ffickering eye' at a few years term. The abnormal position of his pupils was of age. noticed soon after birth by his mother. He attended His left pupil was inferiorly displaced appearing a normal school but had learning and social difficult- similar to an incomplete coloboma and his right lens ies and was referred for ophthalmic examination at was subluxated. The visual acuity in his right eye the age of 9 years. was 6/9 + without a significant refractive error. Refraction of the left eye showed - 10 diopters of On examination he had temporal ectopia of both on September 30, 2021 by guest. Protected pupils (fig 1) with lens equators visible within the myopia and the eye became amblyopic. pupil on each side. The lenses themselves were small At the age of 71 years he was coping well in a and displaced nasally with dehiscence of the zonule. normal school. He had normal stature, no dysmor- phic features, no clinical signs of Marfan syndrome, and urine amino acid screening was negative. Department of Medical Genetics, St Mary's Hos- Examination of the younger brother (case 3) pital, Hathersage Road, Manchester M13 OJH. showed normally positioned pupils but by 2j years A Colley, D Donnai there was iridodonesis and bilateral subluxation of Manchester Royal Eye Hospital, Manchester M13 the lenses. By 4f years he required highly hyperme- OJH. tropic glasses and used the aphakic area ofhis pupils. I C Lloyd, A Ridgway His left lens (fig 2) was dislocated upwards with a Correspondence to Dr Colley. relatively large aphakic area inferiorly and refraction of this eye showed + 10 diopters of hypermetropia. Received for publication 5 June 1990. His right lens was subluxated inferiorly with a Revised version accepted for publication 7 February 1991. smaller resultant aphakic area. Recently both lenses J Med Genet: first published as 10.1136/jmg.28.11.791 on 1 November 1991. Downloaded from 792 Colley, Lloyd, Ridgway, Donnai Figure 1 Left eye of case 1 showing temporal ectopia pupillae. have become opaque and right vitreolensectomy has antiglaucomatous medication. Corneal diameters been performed. were normal. Both optic discs were pink with no He had normal stature and no dysmorphic significant cupping but some degree of tilting. features. Urine amino acid screens were negative. Gonioscopy showed bilateral gross abnormalities of Both parents had normal eyes. the drainage angles. The iris was inserted directly into the sclerocornea and prominent iris processes were present. Contact lenses were prescribed. Visual copyright. CASES 4 AND 5 acuity at the age of 2! by preferential looking tech- Two male sibs were born to a non-consanguineous niques was 20/600 with both eyes. English couple. The older boy (case 4) was born at The younger sib (case 5) was born at term after a 36 weeks of gestation after a normal pregnancy. His normal pregnancy. His mother noted identical eye mother noticed 'flickering' in both his eyes at the age signs to those of his older brother and examination of 3 months. Examination showed bilateral, infer- showed marked inferior subluxation ofthe right lens iorly subluxated lenses with superonasal ectopia and slight inferior subluxation of the left. pupillae (fig 3). Intraocular pressure measurement On examination at the age of 18 months his right http://jmg.bmj.com/ showed abnormal pressures and he began topical pupil was very slightly ectopic superonasally while on September 30, 2021 by guest. Protected Figure 2 Left eye of case 3 with dilated pupil, showing upward dislocation of a cataractous lens. An abnormal pattern of the iris stroma is evident. J Med Genet: first published as 10.1136/jmg.28.11.791 on 1 November 1991. Downloaded from Ectopia lentis et pupillae: the genetic aspects and differential diagnosis 793 Figure 3 Right and left eyes of case 4 showing superonasal pupillary displacement. the left was displaced superotemporally. Intraocular The differential diagnosis of ectopia lentis. pressures were raised in both eyes and he required Condition topical antiglaucomatous therapy. His corneal dia- Inheritance meters were normal and both optic discs Ocular disorders appeared Isolated ectopia lentis' AD healthy. Gonioscopy showed gross abnormality of Ectopia lentis et pupillae AR the drainage angles with anterior iris insertion and Ectopia lentis, blepharoptosis, myopia2 AD Ectopia lentis, keratoconus, cataracts3 Unknown no normal angle structures visible. Visual acuity by Rieger's anomaly/syndrome -/AD copyright. preferential looking techniques was 20/150 bilater- Microspherophakia AR Uveal coloboma ally and contact lenses were needed to overcome the Persistent hyperplastic vitreous anisometropia. High myopia with buphthalmos Both sibs had normal stature and Intraocular infection body propor- Ocular trauma tions, no dysmorphic features, and normal develop- Iatrogenic, post eye surgery ment. There was no relevant family history and both Malformation syndromes parents, a sib, and half sib had normal eyes. Marfan AD Weill-Marchesani AR http://jmg.bmj.com/ Metabolic disorders Differential diagnosis Homocystinuria AR Sulphite oxidase deficiency AR The differential diagnosis of ectopia lentis et pupil- Molybdenum cofactor deficiency AR lae includes purely ocular abnormalities, as well as Hyperlysinaemia AR syndromes and metabolic disorders (table). Rare associations Ehlers-Danlos syndrome AD Sturge-Weber sequence Mandibulofacial dysostosis AD on September 30, 2021 by guest. Protected Discussion Kniest syndrome AD The Crouzon syndrome AD normal human pupil is displaced 0-5 mm infer- Refsum syndrome AR iorly and nasally. Its displacement is often associated Scleroderma with progressive eye disease but may be congenital AD = autosomal dominant, AR = autosomal recessive, -= spor- and non-progressive. In the latter situation, adic. displacement of the lens is also often associated, but can be difficult to detect with the pupil undilated, so iridodonesis or a change in visual acuity or refraction may be an important clue.4 another, although the condition can be unilateral. Ectopia lentis et pupillae was described in early The pupils are often slit-like, ellipsoid, or oval. 20th century German publications which amply Affected pupils tend to be difficult to dilate owing to showed autosomal recessive inheritance with mul- an atrophic, disrupted sphincter, and prominent iris tiple occurrences within sibships and unaffected but processes are usually seen in the angle ofthe anterior frequently consanguineous parents. Both eyes are chamber on gonioscopy. The pupils may be dis- usually affected and may be the mirror image of one placed in a direction opposite to that of the ectopic J Med Genet: first published as 10.1136/jmg.28.11.791 on 1 November 1991. Downloaded from 794 Colley, Lloyd, Ridgway, Donnai lenses and recent reports indicate that the lens may or systemic disease.78 Subluxation of the lens may dislocate in any direction.5 Visual acuity is depend- occur in any direction and a particular position is ent upon the configuration of the pupil and the lens only suggestive, rather than diagnostic, of any spe- displacement. cific condition. A geneticist frequently becomes In a recent series of 16 patients with ectopia lentis involved because of the many inherited syndromes et pupillae,6 displacement of the pupils occurred in in which ectopia lentis is a cardinal feature. Accurate 60% of eyes, although a persistent pupillary mem- diagnosis of ectopia lentis et pupillae is important brane was seen in over 87%. High myopia and for risk assessment, prognosis, and management. tilting of the optic disc was reported in over 50%.
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