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Pupillary membrane, persistence of

MedGen UID:
124386
Concept ID:
C0271130
Congenital Abnormality
Synonym: Pupillary Membrane, Persistence Of
 
Monarch Initiative: MONDO:0008352
OMIM®: 178900

Clinical features

From HPO
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
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.

Professional guidelines

PubMed

Wang Q, Zhou F, Chen W, Chen J, Ouyang Z, Lin Z, Li X, Lin H, Chen W
Eur J Ophthalmol 2020 Sep;30(5):1143-1148. Epub 2019 Jul 1 doi: 10.1177/1120672119859666. PMID: 31256682
Spratt A, Blieden LS, Dubovy SR, Berrocal A, Lee RK
J Glaucoma 2017 Apr;26(4):e160-e162. doi: 10.1097/IJG.0000000000000543. PMID: 27571445

Recent clinical studies

Etiology

Chen W, Chen K, Chen H, Wang Q, Lin D, Qin T, Bai B, Lin Z, Li J, Li X, Lin X, Zhong Q, Chen W
J Cataract Refract Surg 2024 May 1;50(5):511-517. doi: 10.1097/j.jcrs.0000000000001393. PMID: 38192060Free PMC Article
Wang Q, Zhou F, Chen W, Chen J, Ouyang Z, Lin Z, Li X, Lin H, Chen W
Eur J Ophthalmol 2020 Sep;30(5):1143-1148. Epub 2019 Jul 1 doi: 10.1177/1120672119859666. PMID: 31256682
Lee HJ, Kim JH, Kim SJ, Yu YS
Korean J Ophthalmol 2018 Apr;32(2):103-107. Epub 2018 Mar 19 doi: 10.3341/kjo.2017.0069. PMID: 29560620Free PMC Article
Spratt A, Blieden LS, Dubovy SR, Berrocal A, Lee RK
J Glaucoma 2017 Apr;26(4):e160-e162. doi: 10.1097/IJG.0000000000000543. PMID: 27571445
Mikhail M, Modabber M, Khan A
Eye (Lond) 2016 Sep;30(9):1274-5. Epub 2016 Jul 8 doi: 10.1038/eye.2016.130. PMID: 27391935Free PMC Article

Diagnosis

Lee HJ, Kim JH, Kim SJ, Yu YS
Korean J Ophthalmol 2018 Apr;32(2):103-107. Epub 2018 Mar 19 doi: 10.3341/kjo.2017.0069. PMID: 29560620Free PMC Article
Li E, Galvin JA
Ophthalmic Genet 2018 Apr;39(2):282-285. Epub 2017 Nov 8 doi: 10.1080/13816810.2017.1381979. PMID: 29116865
Doyle JJ, Reddy AK
JAMA Ophthalmol 2016 Jul 14;134(7):e160030. doi: 10.1001/jamaophthalmol.2016.0030. PMID: 27416274
Fard AM, Asghari S, Pourafkari L, Nader ND
QJM 2016 Feb;109(2):139-40. Epub 2015 Sep 30 doi: 10.1093/qjmed/hcv183. PMID: 26424787
Tsui I, Voleti VB, Giaconi JA, Dumars S, Hosseini H, John VJ, Berrocal AM
Retina 2013 Nov-Dec;33(10):2177-9. doi: 10.1097/IAE.0b013e318290d7f3. PMID: 23632955

Therapy

Chang M, Ancona-Lezama D, Shields CL
Indian J Ophthalmol 2019 Oct;67(10):1704-1705. doi: 10.4103/ijo.IJO_311_19. PMID: 31546520Free PMC Article
Lee HJ, Kim JH, Kim SJ, Yu YS
Korean J Ophthalmol 2018 Apr;32(2):103-107. Epub 2018 Mar 19 doi: 10.3341/kjo.2017.0069. PMID: 29560620Free PMC Article
Spratt A, Blieden LS, Dubovy SR, Berrocal A, Lee RK
J Glaucoma 2017 Apr;26(4):e160-e162. doi: 10.1097/IJG.0000000000000543. PMID: 27571445
Doyle JJ, Reddy AK
JAMA Ophthalmol 2016 Jul 14;134(7):e160030. doi: 10.1001/jamaophthalmol.2016.0030. PMID: 27416274
Chu ER, Taranath DA
J Pediatr Ophthalmol Strabismus 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100510-01. PMID: 21214149

Prognosis

Lee HJ, Kim JH, Kim SJ, Yu YS
Korean J Ophthalmol 2018 Apr;32(2):103-107. Epub 2018 Mar 19 doi: 10.3341/kjo.2017.0069. PMID: 29560620Free PMC Article
Mikhail M, Modabber M, Khan A
Eye (Lond) 2016 Sep;30(9):1274-5. Epub 2016 Jul 8 doi: 10.1038/eye.2016.130. PMID: 27391935Free PMC Article

Clinical prediction guides

Chen W, Chen K, Chen H, Wang Q, Lin D, Qin T, Bai B, Lin Z, Li J, Li X, Lin X, Zhong Q, Chen W
J Cataract Refract Surg 2024 May 1;50(5):511-517. doi: 10.1097/j.jcrs.0000000000001393. PMID: 38192060Free PMC Article

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