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Protanopia

MedGen UID:
1635279
Concept ID:
C4551767
Disease or Syndrome
Synonym: PROTANOPIA
SNOMED CT: Protanopia (51445007)
 
HPO: HP:0011522
OMIM®: 303900

Definition

Blue and green cones only; no functional red cones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProtanopia

Conditions with this feature

Ocular albinism, type II
MedGen UID:
120643
Concept ID:
C0268505
Disease or Syndrome
Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).
X-linked cone dysfunction syndrome with myopia
MedGen UID:
463611
Concept ID:
C3159311
Disease or Syndrome
Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).

Professional guidelines

PubMed

Davison PA, Scanlon G
Optom Vis Sci 2020 Oct;97(10):852-856. doi: 10.1097/OPX.0000000000001582. PMID: 33055513
Kellner U, Sadowski B, Zrenner E, Foerster MH
Invest Ophthalmol Vis Sci 1995 Nov;36(12):2381-7. PMID: 7591627

Recent clinical studies

Etiology

Iizuka T, Kawamorita T, Handa T, Ishikawa H
J Opt Soc Am A Opt Image Sci Vis 2023 May 1;40(5):849-858. doi: 10.1364/JOSAA.480467. PMID: 37133182
Wetzel D, Ungewiss J, Wörner M, Wilhelm H, Schiefer U
PLoS One 2021;16(12):e0260362. Epub 2021 Dec 20 doi: 10.1371/journal.pone.0260362. PMID: 34928982Free PMC Article
Naresh S
Indian J Physiol Pharmacol 1995 Apr;39(2):127-30. PMID: 7649599
Adam A
Am J Phys Anthropol 1980 Sep;53(3):339-46. doi: 10.1002/ajpa.1330530304. PMID: 6970528
Khoubesserian P, van Regemorter N, Ohrn-Degueldre O, Toussaint D, Telerman-Toppet N, Coërs C
J Neurol 1979;222(1):1-10. doi: 10.1007/BF00313262. PMID: 93622

Diagnosis

Iizuka T, Kawamorita T, Handa T, Ishikawa H
J Opt Soc Am A Opt Image Sci Vis 2023 May 1;40(5):849-858. doi: 10.1364/JOSAA.480467. PMID: 37133182
Álvaro L, Linhares JMM, Formankiewicz MA, Waugh SJ
Sci Rep 2022 Jul 1;12(1):11140. doi: 10.1038/s41598-022-13877-9. PMID: 35778454Free PMC Article
Taore A, Lobo G, Turnbull PR, Dakin SC
Sci Rep 2022 May 11;12(1):7734. doi: 10.1038/s41598-022-11152-5. PMID: 35562176Free PMC Article
AlRyalat SA, Muhtaseb R, Alshammari T
Eye (Lond) 2021 Aug;35(8):2229-2232. Epub 2020 Oct 26 doi: 10.1038/s41433-020-01232-z. PMID: 33106610Free PMC Article
Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM
Ophthalmology 2005 Aug;112(8):1448-54. doi: 10.1016/j.ophtha.2005.02.021. PMID: 15953640

Therapy

AlRyalat SA, Muhtaseb R, Alshammari T
Eye (Lond) 2021 Aug;35(8):2229-2232. Epub 2020 Oct 26 doi: 10.1038/s41433-020-01232-z. PMID: 33106610Free PMC Article
Gambino O, Minafo E, Pirrone R, Ardizzone E
Annu Int Conf IEEE Eng Med Biol Soc 2016 Aug;2016:5628-5631. doi: 10.1109/EMBC.2016.7592003. PMID: 28269531
Boadi-Kusi SB, Kyei S, Asare FA, Owusu-Ansah A, Awuah A, Darko-Takyi C
J Optom 2016 Jan-Mar;9(1):54-63. Epub 2015 Sep 11 doi: 10.1016/j.optom.2015.06.004. PMID: 26364760Free PMC Article
Al-Aqtum MT, Al-Qawasmeh MH
Ophthalmologica 2001 Jan-Feb;215(1):39-42. doi: 10.1159/000050824. PMID: 11125268

Prognosis

Thorstenson CA, Pazda AD, Elliot AJ
Pers Soc Psychol Bull 2020 Jan;46(1):51-63. Epub 2019 Apr 13 doi: 10.1177/0146167219841641. PMID: 30982423
Orosz O, Rajta I, Vajas A, Takács L, Csutak A, Fodor M, Kolozsvári B, Resch M, Sényi K, Lesch B, Szabó V, Berta A, Balogh I, Losonczy G
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1834-1842. doi: 10.1167/iovs.16-21405. PMID: 28358949
Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL
Invest Ophthalmol Vis Sci 2009 Apr;50(4):1552-8. Epub 2008 Dec 20 doi: 10.1167/iovs.08-2455. PMID: 19098318Free PMC Article
Hayashi T, Kubo A, Takeuchi T, Gekka T, Goto-Omoto S, Kitahara K
Vis Neurosci 2006 May-Aug;23(3-4):411-7. doi: 10.1017/S0952523806233029. PMID: 16961974
Naresh S
Indian J Physiol Pharmacol 1995 Apr;39(2):127-30. PMID: 7649599

Clinical prediction guides

Iizuka T, Kawamorita T, Handa T, Ishikawa H
J Opt Soc Am A Opt Image Sci Vis 2023 May 1;40(5):849-858. doi: 10.1364/JOSAA.480467. PMID: 37133182
Álvaro L, Linhares JMM, Formankiewicz MA, Waugh SJ
Sci Rep 2022 Jul 1;12(1):11140. doi: 10.1038/s41598-022-13877-9. PMID: 35778454Free PMC Article
Wetzel D, Ungewiss J, Wörner M, Wilhelm H, Schiefer U
PLoS One 2021;16(12):e0260362. Epub 2021 Dec 20 doi: 10.1371/journal.pone.0260362. PMID: 34928982Free PMC Article
Thorstenson CA, Pazda AD, Elliot AJ
Pers Soc Psychol Bull 2020 Jan;46(1):51-63. Epub 2019 Apr 13 doi: 10.1177/0146167219841641. PMID: 30982423
Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA
Arch Ophthalmol 2004 Jun;122(6):897-908. doi: 10.1001/archopht.122.6.897. PMID: 15197065

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