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Retinal dysplasia, primary(PRD)

MedGen UID:
854679
•Concept ID:
C3887971
•
Disease or Syndrome
Synonym: PRD
 
OMIM®: 312550

Clinical features

From HPO
Retinal dysplasia
MedGen UID:
48433
•Concept ID:
C0035313
•
Congenital Abnormality
The presence of developmental dysplasia of the retina.
See: Feature record | Search on this feature
Falciform retinal fold
MedGen UID:
488857
•Concept ID:
C0344550
•
Congenital Abnormality
An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Fassad MR, Rumman N, Junger K, Patel MP, Thompson J, Goggin P, Ueffing M, Beyer T, Boldt K, Lucas JS, Mitchison HM
Hum Mol Genet 2023 Oct 17;32(21):3090-3104. doi: 10.1093/hmg/ddad132. PMID: 37555648Free PMC Article
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article

Recent clinical studies

Etiology

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Assessment of cancer stem cell marker expression in primary head and neck squamous cell carcinoma shows prognostic value for aldehyde dehydrogenase (ALDH1A1).
Szafarowski T, Sierdziński J, Ludwig N, Głuszko A, Filipowska A, Szczepański MJ
Eur J Pharmacol 2020 Jan 15;867:172837. Epub 2019 Dec 5 doi: 10.1016/j.ejphar.2019.172837. PMID: 31811857
Retinal vascular changes in preterm infants: heart and lung diseases and plus disease.
Arriola-Lopez AE, Martinez-Perez ME, Martinez-Castellanos MA
J AAPOS 2017 Dec;21(6):488-491.e1. Epub 2017 Nov 22 doi: 10.1016/j.jaapos.2017.08.004. PMID: 29104139
Morphological and immunohistochemical study of ovarian and tubal dysplasia associated with tamoxifen.
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
Nonsmall-cell lung cancer: chemoprevention studies.
Karp DD, Tsao AS, Kim ES
Semin Thorac Cardiovasc Surg 2003 Oct;15(4):405-20. doi: 10.1053/s1043-0679(03)00100-x. PMID: 14710383

Diagnosis

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Unilateral cancer-associated retinopathy: a case report.
Javaid Z, Rehan SM, Al-Bermani A, Payne G
Scott Med J 2016 Aug;61(3):155-159. Epub 2015 Aug 4 doi: 10.1177/0036933015598124. PMID: 26246524
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Coats' disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT.
Edward DP, Mafee MF, Garcia-Valenzuela E, Weiss RA
Radiol Clin North Am 1998 Nov;36(6):1119-31, x. doi: 10.1016/s0033-8389(05)70235-9. PMID: 9884692
Complex microphthalmos.
Weiss AH, Kousseff BG, Ross EA, Longbottom J
Arch Ophthalmol 1989 Nov;107(11):1619-24. doi: 10.1001/archopht.1989.01070020697031. PMID: 2818283

Therapy

Unilateral cancer-associated retinopathy: a case report.
Javaid Z, Rehan SM, Al-Bermani A, Payne G
Scott Med J 2016 Aug;61(3):155-159. Epub 2015 Aug 4 doi: 10.1177/0036933015598124. PMID: 26246524
Morphological and immunohistochemical study of ovarian and tubal dysplasia associated with tamoxifen.
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
Chemoprevention of lung cancer.
Cohen V, Khuri FR
Curr Opin Pulm Med 2004 Jul;10(4):279-83. doi: 10.1097/01.mcp.0000129754.97392.d5. PMID: 15220752
Nonsmall-cell lung cancer: chemoprevention studies.
Karp DD, Tsao AS, Kim ES
Semin Thorac Cardiovasc Surg 2003 Oct;15(4):405-20. doi: 10.1053/s1043-0679(03)00100-x. PMID: 14710383
Complications in infants undergoing surgery for congenital cataract in the first 12 weeks of life: is early surgery better?
Watts P, Abdolell M, Levin AV
J AAPOS 2003 Apr;7(2):81-5. doi: 10.1016/mpa.2003.S1091853102420095. PMID: 12736618

Prognosis

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA
Pediatr Nephrol 2023 Feb;38(2):605-609. Epub 2022 Jun 13 doi: 10.1007/s00467-022-05616-z. PMID: 35695966Free PMC Article
Assessment of cancer stem cell marker expression in primary head and neck squamous cell carcinoma shows prognostic value for aldehyde dehydrogenase (ALDH1A1).
Szafarowski T, Sierdziński J, Ludwig N, Głuszko A, Filipowska A, Szczepański MJ
Eur J Pharmacol 2020 Jan 15;867:172837. Epub 2019 Dec 5 doi: 10.1016/j.ejphar.2019.172837. PMID: 31811857
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Guen VJ, Edvardson S, Fraenkel ND, Fattal-Valevski A, Jalas C, Anteby I, Shaag A, Dor T, Gillis D, Kerem E, Lees JA, Colas P, Elpeleg O
Am J Med Genet A 2018 Jan;176(1):92-98. Epub 2017 Nov 12 doi: 10.1002/ajmg.a.38506. PMID: 29130579Free PMC Article
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA, Ferrell RE, Sims KB, Fernandez KM, Gemmell BS, Satriano DR, Caster J, Kretzer FL
Ophthalmology 1996 Dec;103(12):2128-34. doi: 10.1016/s0161-6420(96)30379-5. PMID: 9003348

Clinical prediction guides

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Postoperative follow-up of a case of atypical morning glory syndrome associated with persistent fetal vasculature.
Jiang H, Liang Y, Long K, Luo J
BMC Ophthalmol 2019 Jul 16;19(1):150. doi: 10.1186/s12886-019-1154-6. PMID: 31311513Free PMC Article
Retinal vascular changes in preterm infants: heart and lung diseases and plus disease.
Arriola-Lopez AE, Martinez-Perez ME, Martinez-Castellanos MA
J AAPOS 2017 Dec;21(6):488-491.e1. Epub 2017 Nov 22 doi: 10.1016/j.jaapos.2017.08.004. PMID: 29104139
Morphological and immunohistochemical study of ovarian and tubal dysplasia associated with tamoxifen.
Chene G, Radosevic-Robin N, Tardieu AS, Cayre A, Raoelfils I, Dechelotte P, Dauplat J, Penault Llorca F
Eur J Histochem 2014 Apr 15;58(2):2251. doi: 10.4081/ejh.2014.2251. PMID: 24998918Free PMC Article
X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.
Godel V, Goodman RM
Clin Genet 1981 Oct;20(4):260-6. doi: 10.1111/j.1399-0004.1981.tb01031.x. PMID: 7333018

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