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Occult macular dystrophy(OCMD)

MedGen UID:
462183
Concept ID:
C3150833
Disease or Syndrome
Synonyms: OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO; OCMD; OMD
SNOMED CT: Occult macular dystrophy (770667002); OCMD - occult macular dystrophy (770667002); OMD - occult macular dystrophy (770667002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): RP1L1 (8p23.1)
 
HPO: HP:0030636
Monarch Initiative: MONDO:0013316
OMIM®: 613587
Orphanet: ORPHA247834

Definition

Occult macular dystrophy (OCMD) is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000). [from OMIM]

Clinical features

From HPO
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Slow decrease in visual acuity
MedGen UID:
343976
Concept ID:
C1853141
Finding
Abnormal multifocal electroretinogram
MedGen UID:
892908
Concept ID:
C4072958
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOccult macular dystrophy
Follow this link to review classifications for Occult macular dystrophy in Orphanet.

Professional guidelines

PubMed

Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K
Invest Ophthalmol Vis Sci 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670. PMID: 27623337
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article

Recent clinical studies

Etiology

Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Wang DD, Gao FJ, Li JK, Chen F, Hu FY, Xu GZ, Zhang JG, Sun HX, Zhang SH, Xu P, Tian GH, Wu JH
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):10. doi: 10.1167/iovs.61.3.10. PMID: 32176261Free PMC Article
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H
Optom Vis Sci 2012 May;89(5):684-91. doi: 10.1097/OPX.0b013e31824eea32. PMID: 22504327

Diagnosis

Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Luoma-Overstreet G, Jewell A, Brar V, Couser N
Ophthalmic Genet 2022 Oct;43(5):703-708. Epub 2022 Jun 29 doi: 10.1080/13816810.2022.2089361. PMID: 35765812
Toland A
Optom Vis Sci 2022 Apr 1;99(4):405-412. doi: 10.1097/OPX.0000000000001858. PMID: 35001063
Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y
Invest Ophthalmol Vis Sci 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PMID: 31725168
Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H
Am J Ophthalmol 1996 Nov;122(5):644-53. doi: 10.1016/s0002-9394(14)70482-9. PMID: 8909203

Therapy

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group
Br J Ophthalmol 2021 Sep;105(9):1272-1279. Epub 2021 Apr 20 doi: 10.1136/bjophthalmol-2020-318544. PMID: 33879469Free PMC Article
Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H
Doc Ophthalmol 2014 Aug;129(1):49-56. Epub 2014 May 17 doi: 10.1007/s10633-014-9443-0. PMID: 24838559

Prognosis

Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y
Invest Ophthalmol Vis Sci 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PMID: 31725168
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H
Optom Vis Sci 2012 May;89(5):684-91. doi: 10.1097/OPX.0b013e31824eea32. PMID: 22504327

Clinical prediction guides

Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Wang DD, Gao FJ, Li JK, Chen F, Hu FY, Xu GZ, Zhang JG, Sun HX, Zhang SH, Xu P, Tian GH, Wu JH
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):10. doi: 10.1167/iovs.61.3.10. PMID: 32176261Free PMC Article
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article

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