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Ectopia lentis et pupillae

MedGen UID:
301316
Concept ID:
C1644196
Disease or Syndrome
Synonym: ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
SNOMED CT: Ectopia lentis et pupillae (419237004)
 
Gene (location): ADAMTSL4 (1q21.2)
 
Monarch Initiative: MONDO:0009153
OMIM®: 225200

Disease characteristics

Excerpted from the GeneReview: ADAMTSL4-Related Eye Disorders
The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals. [from GeneReviews]
Authors:
Eyvind Rødahl  |  Anne Elisabeth Christensen Mellgren  |  Nils-Erik Boonstra, et. al.   view full author information

Additional description

From OMIM
Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010).  http://www.omim.org/entry/225200

Clinical features

From HPO
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Persistent pupillary membrane
MedGen UID:
138009
Concept ID:
C0344541
Congenital Abnormality
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
Iris transillumination defect
MedGen UID:
786045
Concept ID:
C1096099
Anatomical Abnormality
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Congenital ectopic pupil
MedGen UID:
224790
Concept ID:
C1271219
Congenital Abnormality
Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

Professional guidelines

PubMed

Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G
Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. PMID: 22736615

Recent clinical studies

Etiology

Knight LSW, Mullany S, Taranath DA, Ruddle JB, Barnett CP, Sallevelt SCEH, Berry EC, Marshall HN, Hollitt GL, Souzeau E, Craig JE, Siggs OM
Mol Vis 2022;28:257-268. Epub 2022 Sep 4 PMID: 36284667Free PMC Article
Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G
Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. PMID: 22736615
Wu-Chen WY, Letson RD, Summers CG
J AAPOS 2005 Aug;9(4):353-7. doi: 10.1016/j.jaapos.2005.03.004. PMID: 16102486
Townes PL
Arch Ophthalmol 1976 Jul;94(7):1126-8. doi: 10.1001/archopht.1976.03910040042007. PMID: 938292

Diagnosis

Knight LSW, Mullany S, Taranath DA, Ruddle JB, Barnett CP, Sallevelt SCEH, Berry EC, Marshall HN, Hollitt GL, Souzeau E, Craig JE, Siggs OM
Mol Vis 2022;28:257-268. Epub 2022 Sep 4 PMID: 36284667Free PMC Article
Zhao J, Zhou Y, Zhang J, Zhang K, Shang L, Li J
Exp Eye Res 2022 Nov;224:109243. Epub 2022 Sep 9 doi: 10.1016/j.exer.2022.109243. PMID: 36089008
Safi M, Nejad SK, O'Hara M, Shankar SP
J Pediatr Ophthalmol Strabismus 2019 Jul 5;56:e45-e48. doi: 10.3928/01913913-20190509-01. PMID: 31282960
Sharifi Y, Tjon-Fo-Sang MJ, Cruysberg JR, Maat-Kievit AJ
Br J Ophthalmol 2013 May;97(5):583-7. Epub 2013 Feb 20 doi: 10.1136/bjophthalmol-2012-302367. PMID: 23426735
Ekonomidis P, Androudi S, Brazitikos P, Alexandridis A
Graefes Arch Clin Exp Ophthalmol 2006 Jul;244(7):878-9. Epub 2005 Nov 29 doi: 10.1007/s00417-005-0180-7. PMID: 16315041

Therapy

Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Wu-Chen WY, Letson RD, Summers CG
J AAPOS 2005 Aug;9(4):353-7. doi: 10.1016/j.jaapos.2005.03.004. PMID: 16102486
Rossiter JD, Morris AH, Etchells DE, Crick MP
Eye (Lond) 2003 Mar;17(2):243-4. doi: 10.1038/sj.eye.6700302. PMID: 12640414
Atkinson CS, Brodsky MC, Hiles DA, Simon JW
J Pediatr Ophthalmol Strabismus 1994 Nov-Dec;31(6):387-90. doi: 10.3928/0191-3913-19941101-09. PMID: 7714703

Prognosis

Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E
Invest Ophthalmol Vis Sci 2010 Dec;51(12):6369-73. Epub 2010 Aug 11 doi: 10.1167/iovs.10-5597. PMID: 20702823
Omulecki W, Wilczynski M, Gerkowicz M
Ophthalmic Surg Lasers Imaging 2006 Jan-Feb;37(1):68-71. PMID: 16468556
Sha'ban RI, Asfour WM
Saudi Med J 2003 Aug;24(8):901-3. PMID: 12939682
Manitto MP, Brancato R, Lombardo N, Zarrella M, Nucci P
Eur J Ophthalmol 1998 Jul-Sep;8(3):188-90. doi: 10.1177/112067219800800313. PMID: 9793775
Goldberg MF
Trans Am Ophthalmol Soc 1988;86:158-77. PMID: 2979048Free PMC Article

Clinical prediction guides

Zhao J, Zhou Y, Zhang J, Zhang K, Shang L, Li J
Exp Eye Res 2022 Nov;224:109243. Epub 2022 Sep 9 doi: 10.1016/j.exer.2022.109243. PMID: 36089008
Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E
Invest Ophthalmol Vis Sci 2010 Dec;51(12):6369-73. Epub 2010 Aug 11 doi: 10.1167/iovs.10-5597. PMID: 20702823
Byles DB, Nischal KK, Cheng H
Ophthalmology 1998 Jul;105(7):1331-6. doi: 10.1016/S0161-6420(98)97043-9. PMID: 9663242
Luebbers JA, Goldberg MF, Herbst R, Hattenhauer J, Maumenee AE
Am J Ophthalmol 1977 May;83(5):647-56. doi: 10.1016/0002-9394(77)90130-1. PMID: 868964

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